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: PA2573239460

Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494445

ClinVar RCV Id: RCV001989350 RCV004011091

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004563.2:p.Arg369Lys	CA027068 NM_004572.4:c.1106G>A