Canonical Allele Identifier: PA658748216
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496520
ClinVar RCV Id: RCV000587125 RCV001274854 RCV002483572 RCV004024688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg1280His
CA3852825
NM_138694.3:c.3839G>A