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: PA2580442708

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1722023

ClinVar RCV Id: RCV002302327

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066287.2:p.Thr1552Ala	CA349036382 NM_021007.3:c.4654A>G