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
ENSP00000360158.3:p.His240Gln
CA3853792
ENST00000371117.8:c.720C>G
CA364432063
ENST00000371117.8:c.720C>A