Allele Registry

Canonical Allele Identifier: PA645507770

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000290453

RCV002524496

ClinVar Variation:

357446

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Glu654Lys	CA3853389 NM_138694.3:c.1960G>A