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: PA2573205545

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1403815

ClinVar RCV Id: RCV001901322

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ala615Val	CA349049642 NM_001353961.2:c.1844C>T