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: PA2828476420

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 372556

ClinVar RCV Id: RCV000414308

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Ser1621Pro	CA16042357 NM_001371247.1:c.4861T>C