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
NP_619639.3:p.Glu1594Asp
CA364431419
NM_138694.3:c.4782G>T
CA364431422
NM_138694.3:c.4782G>C