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.Phe3483Leu
CA364435215
ENST00000371117.8:c.10449T>G
CA364435216
ENST00000371117.8:c.10449T>A
CA364435228
ENST00000371117.8:c.10447T>C