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: PA2828475169

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 12881

ClinVar RCV Id: RCV000013741 RCV001217344

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Leu1003Ile	CA122775 NM_001371247.1:c.3007C>A