Canonical Allele Identifier: PA916058968
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167494
ClinVar RCV Id: RCV000153723 RCV001379301
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Cys660Arg
CA234582
NM_170724.3:c.1978T>C