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: PA2825480913

Gene: SCN3A HGNC NCBI

Linked Data

ClinVar Variation Id: 379838

ClinVar RCV Id: RCV000420271 RCV000625713 RCV003992291

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001075146.1:p.Pro1284Leu	CA16604006 NM_001081677.2:c.3851C>T