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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1522655487
Gene: SLC6A3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1444287_1444288delinsAC , CM000667.2:g.1444287_1444288delinsAC
GRCh38
NC_000005.9:g.1444402_1444403delinsAC , CM000667.1:g.1444402_1444403delinsAC
GRCh37
NC_000005.8:g.1497402_1497403delinsAC
NCBI36
NG_015885.1:g.6141_6142delinsGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000270349.12:c.-45-1046_-45-1045delinsGT
MANE Select
ENSP00000270349.9:n.-45-1046_-45-1045delinsGT
ENST00000270349.11:c.-45-1046_-45-1045delinsGT
ENSP00000270349.9:n.-45-1046_-45-1045delinsGT
NM_001044.4:c.-45-1046_-45-1045delinsGT
NP_001035.1:n.-45-1046_-45-1045delinsGT
NM_001044.5:c.-45-1046_-45-1045delinsGT
MANE Select
NP_001035.1:n.-45-1046_-45-1045delinsGT
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