Canonical Allele Identifier: PA234575
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167490
ClinVar RCV Id: RCV000153719 RCV000765889 RCV002516089
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile1050Val
CA234574
NM_138694.3:c.3148A>G