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: PA202101

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 196039

ClinVar RCV Id: RCV000176763 RCV000189181 RCV000417008 RCV001265414 RCV001849328 RCV001847815 RCV002516714

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035232.1:p.Arg1882Gln	CA202100 NM_001040142.2:c.5645G>A