Canonical Allele Identifier: PA149503
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96386
ClinVar RCV Id: RCV000082536 RCV000278857 RCV001530440 RCV001291931 RCV001705797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg760Cys
CA149502
NM_138694.3:c.2278C>T