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: PA2826260514

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 427057

ClinVar RCV Id: RCV000489977 RCV002526043

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Gly1757Glu	CA349068318 NM_001202435.3:c.5270G>A