Canonical Allele Identifier: PA248266
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199185
ClinVar RCV Id: RCV000180702 RCV000633437 RCV001810434 RCV001844818 RCV003917687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Glu218Lys
CA248265
NM_138694.3:c.652G>A