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: PA2828475853

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 390338

ClinVar RCV Id: RCV000422482

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Cys1386Tyr	CA16603824 NM_001371247.1:c.4157G>A