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: PA317032

Gene: PRRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 206689

ClinVar RCV Id: RCV000188770 RCV000229187 RCV001535419 RCV002362987 RCV002492869 RCV004537583

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_660282.2:p.Pro216His	CA317031 NM_145239.3:c.647C>A