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: PA2826260297

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12882

ClinVar RCV Id: RCV000013742 RCV000059521 RCV000484119 RCV001040793 RCV001192959

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Arg1648His	CA256584 NM_001202435.3:c.4943G>A