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.Phe169Leu
CA364436006
ENST00000340994.4:c.507T>G
CA364436008
ENST00000340994.4:c.507T>A
CA364436027
ENST00000340994.4:c.505T>C