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.Ile3167Leu
CA364420927
ENST00000340994.4:c.9499A>T
CA364420929
ENST00000340994.4:c.9499A>C