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: PA2828475345

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2931669

ClinVar RCV Id: RCV003792691

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Met1128Val	CA349022038 NM_001371247.1:c.3382A>G