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: PA2828472861

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 633560

ClinVar RCV Id: RCV000782070

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001358175.1:p.Pro1622Arg