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: PA2827771927

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 427080

ClinVar RCV Id: RCV000489093

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Met1769Val	CA349068113 NM_001353951.2:c.5305A>G