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: PA2826260192

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68637

ClinVar RCV Id: RCV000059516 RCV003588571

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Gly1586Glu	CA285180 NM_001202435.3:c.4757G>A