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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:
PA915980612
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11703
ClinVar RCV Id:
RCV000012469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136278.1:p.Gly17Val
CA256014
NM_001142806.1:c.50G>T