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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:
CA1522655194
Gene: SLC6A3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1733735698
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1443680_1443681insC , CM000667.2:g.1443680_1443681insC
GRCh38
NC_000005.9:g.1443795_1443796insC , CM000667.1:g.1443795_1443796insC
GRCh37
NC_000005.8:g.1496795_1496796insC
NCBI36
NG_015885.1:g.6748_6749insG
Transcript Alleles
HGVS
Amino-acid change
ENST00000270349.12:c.-45-439_-45-438insG
MANE Select
ENSP00000270349.9:n.-45-439_-45-438insG
ENST00000270349.11:c.-45-439_-45-438insG
ENSP00000270349.9:n.-45-439_-45-438insG
NM_001044.4:c.-45-439_-45-438insG
NP_001035.1:n.-45-439_-45-438insG
NM_001044.5:c.-45-439_-45-438insG
MANE Select
NP_001035.1:n.-45-439_-45-438insG
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