Canonical Allele Identifier: PA097834
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188896
ClinVar RCV Id: RCV000169255 RCV000726420 RCV001331692 RCV003937523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg3482Cys
CA274092
NM_138694.3:c.10444C>T