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: PA2829676589

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1436471

ClinVar RCV Id: RCV002002115

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Leu1830Pro	CA349065632 NM_006920.6:c.5489T>C