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: PA2828475061

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 390254

ClinVar RCV Id: RCV000422689

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Cys959Arg	CA16604013 NM_001371247.1:c.2875T>C