Canonical Allele Identifier: PA224090
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96418
ClinVar RCV Id: RCV000173921
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ser228Gly
CA224089
NM_138694.3:c.682A>G