Allele Registry

Canonical Allele Identifier: PA275364

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000179598

ClinVar Variation:

198317

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ile3555Lys	CA275363 NM_138694.3:c.10664T>A