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: PA2499230837

Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 997284

ClinVar RCV Id: RCV001292316

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000288.1:p.Tyr292Ser	CA357632372 NM_000297.4:c.875A>C