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: PA317878

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 206969

ClinVar RCV Id: RCV000578274 RCV001265498

ClinVar Variation Id: 2114224

ClinVar RCV Id: RCV003042677

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035232.1:p.Gly879Arg	CA317877 NM_001040142.2:c.2635G>A CA349013421 NM_001040142.2:c.2635G>C CA2580064222 NM_001040142.2:c.2634_2635delinsTC