Canonical Allele Identifier: PA916058526
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499278
ClinVar RCV Id: RCV000595963 RCV001292159 RCV000671191 RCV001290597 RCV001844839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly112Arg
CA3853963
NM_170724.3:c.334G>A
CA364439614
NM_170724.3:c.334G>C