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: PA2828474918

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1878623

ClinVar RCV Id: RCV002510714

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Asn876Tyr	CA349013386 NM_001371247.1:c.2626A>T