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: PA2825360070

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1703456

ClinVar RCV Id: RCV002280578

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035233.1:p.Phe1527Leu	CA349036207 NM_001040143.2:c.4579T>C CA349036212 NM_001040143.2:c.4581T>A CA349036213 NM_001040143.2:c.4581T>G