Canonical Allele Identifier: PA645507750
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374479
ClinVar RCV Id: RCV000415990 RCV000669988 RCV001844830 RCV003922678
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly448Arg
CA3853582
NM_138694.3:c.1342G>C