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: PA2827752997

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1359116

ClinVar RCV Id: RCV001864245

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Val1292Leu	CA349053828 NM_001353948.2:c.3874G>C