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: PA2827780729

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1057139

ClinVar RCV Id: RCV001366069

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Tyr1682Asp	CA349069335 NM_001353955.2:c.5044T>G