Canonical Allele Identifier: PA242991
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196145
ClinVar RCV Id: RCV000176895 RCV001276778
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly1041Asp
CA242990
NM_138694.3:c.3122G>A