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: PA2828476328

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2435688

ClinVar RCV Id: RCV003136438

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Val1569Met	CA349036569 NM_001371247.1:c.4705G>A