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: PA2827759527

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68621

ClinVar RCV Id: RCV000059498 RCV003137601

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001340878.1:p.Thr1249Pro