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: PA2827780089

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68535

ClinVar RCV Id: RCV000059408 RCV001202491 RCV003352765

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Val1323Met	CA284934 NM_001353955.2:c.3967G>A