Canonical Allele Identifier: PA658807758
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498678
ClinVar RCV Id: RCV000595392 RCV000802278 RCV002531030
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg1280Cys
CA3852826
NM_138694.3:c.3838C>T