Canonical Allele Identifier: PA337274
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215967
ClinVar RCV Id: RCV000197522 RCV003133173
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg909Gln
CA337273
NM_138694.3:c.2726G>A