Allele Registry

Canonical Allele Identifier: PA224067

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000488108

RCV001488784

RCV002513851

RCV003133132

ClinVar Variation:

96395

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg1081Cys	CA224066 NM_138694.3:c.3241C>T