Allele Registry

Canonical Allele Identifier: PA241996

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

192699

ClinVar RCV:

RCV000176124

RCV001082977

ClinVar Variation:

195538

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Tyr617His	CA241995 NM_138694.3:c.1849T>C