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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:
CA1522655541
Gene: SLC6A3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1444395_1444397delinsTAC , CM000667.2:g.1444395_1444397delinsTAC
GRCh38
NC_000005.9:g.1444510_1444512delinsTAC , CM000667.1:g.1444510_1444512delinsTAC
GRCh37
NC_000005.8:g.1497510_1497512delinsTAC
NCBI36
NG_015885.1:g.6032_6034delinsGTA
Transcript Alleles
HGVS
Amino-acid change
ENST00000270349.12:c.-46+951_-46+953delinsGTA
MANE Select
ENSP00000270349.9:n.-46+951_-46+953delinsGTA
ENST00000270349.11:c.-46+951_-46+953delinsGTA
ENSP00000270349.9:n.-46+951_-46+953delinsGTA
NM_001044.4:c.-46+951_-46+953delinsGTA
NP_001035.1:n.-46+951_-46+953delinsGTA
NM_001044.5:c.-46+951_-46+953delinsGTA
MANE Select
NP_001035.1:n.-46+951_-46+953delinsGTA
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