Allele Registry

Canonical Allele Identifier: PA149503

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000082536

RCV000278857

RCV001291931

RCV001530440

RCV001705797

ClinVar Variation:

96386

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg760Cys	CA149502 NM_138694.3:c.2278C>T CA3054209577 NM_138694.3:c.2277_2278delinsGT