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: PA2827784247

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 461244

ClinVar RCV Id: RCV000536922

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Gly58_Leu61del	CA658657102 NM_001353958.2:c.172_183del