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: PA658818521

Gene: SCN3A HGNC NCBI

Linked Data

ClinVar Variation Id: 522565

ClinVar RCV Id: RCV000625710 RCV001239906

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008853.3:p.Met1372Val	CA1938645 NM_006922.4:c.4114A>G