Canonical Allele Identifier: PA658807940
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496885
ClinVar RCV Id: RCV000595376 RCV000816584 RCV002532360 RCV003151109 RCV003925761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg3620His
CA3851006
NM_138694.3:c.10859G>A