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: PA916036909

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206854

ClinVar RCV Id: RCV000188988

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Arg834Leu	CA317561 NM_001353961.2:c.2501G>T