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: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000341097.4:p.Phe167Leu
CA364436066
ENST00000340994.4:c.501T>G
CA364436069
ENST00000340994.4:c.501T>A
CA364436082
ENST00000340994.4:c.499T>C