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: PA2827780540

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68553

ClinVar RCV Id: RCV000059427 RCV000188978 RCV000794558 RCV001031013 RCV001253159 RCV002265592

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Arg1584Cys	CA145250 NM_001353955.2:c.4750C>T