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: PA2828471209

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 207072

ClinVar RCV Id: RCV000189227 RCV002298513 RCV002514058

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358175.1:p.Ser686Ile	CA318168 NM_001371246.1:c.2057G>T