Canonical Allele Identifier: PA645507793
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282054
ClinVar RCV Id: RCV000383818 RCV000527916 RCV002487192
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg880His
CA10604054
NM_138694.3:c.2639G>A