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: PA2827769382

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68668

ClinVar RCV Id: RCV000059548 RCV001854248

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Trp190Arg	CA285246 NM_001353951.2:c.568T>C CA349075387 NM_001353951.2:c.568T>A