Allele Registry

Canonical Allele Identifier: PA097978

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV002015121

RCV002492293

ClinVar Variation:

1494871

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Cys2422Arg	CA3851987 NM_138694.3:c.7264T>C