Canonical Allele Identifier: PA275145
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196052
ClinVar RCV Id: RCV000176777 RCV000724042 RCV001198369 RCV001844815
ClinVar Variation Id: 549956
ClinVar RCV Id: RCV000664542
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly952Arg
CA275144
NM_138694.3:c.2854G>A
CA364442421
NM_138694.3:c.2854G>C