Canonical Allele Identifier: PA645507892
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357427
ClinVar RCV Id: RCV000299549 RCV000522783 RCV002504175 RCV003912528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Trp2690Arg
CA10624394
NM_138694.3:c.8068T>C
CA364429090
NM_138694.3:c.8068T>A