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: PA916036983

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189851

ClinVar RCV Id: RCV000180805

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ser936_Ser937delinsArg	CA303110 NM_001353961.2:c.2808_2810del