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: PA2580509578

Gene: PRRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1953716

ClinVar RCV Id: RCV002700464

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_660282.2:p.Arg230Lys	CA395479295 NM_145239.3:c.689G>A