Allele Registry

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.

Canonical Allele Identifier: PA2827789632

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68650

ClinVar RCV Id: RCV000059530 RCV000465483 RCV000501085

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001340889.1:p.Tyr1665Cys