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: PA2826260497

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 863847

ClinVar RCV Id: RCV001070909

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Pro1748Arg	CA349068404 NM_001202435.3:c.5243C>G