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: PA2828473565

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 130224

ClinVar RCV Id: RCV000118260 RCV000379925 RCV000860054 RCV001640094 RCV002312496

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Arg19Lys	CA155062 NM_001371247.1:c.56G>A