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: PA645403615

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 372977

ClinVar RCV Id: RCV000413641

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Leu981Ile	CA16042438 NM_001165963.4:c.2941C>A