This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PKD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000287.3:p.Cys508Phe
NM_000296.3:c.1523G>T