Canonical Allele Identifier: PA2830258611
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1347236
ClinVar RCV Id: RCV002033050 RCV003154203 RCV003470946
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Tyr3155Cys
CA138896240
NM_138694.3:c.9464A>G