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: PA2827787378

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206740

ClinVar RCV Id: RCV000188835 RCV000500830

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Ser169Pro	CA317134 NM_001353960.2:c.505T>C