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: PA2825112771

Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 874107

ClinVar RCV Id: RCV001096779

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000290.2:p.Ala307Ser	CA1324241 NM_000299.4:c.919G>T