Allele Registry

Canonical Allele Identifier: PA658807778

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000596307

RCV001088747

RCV002470925

RCV003953000

ClinVar Variation:

502043

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg1624Gln	CA3852650 NM_138694.3:c.4871G>A