Canonical Allele Identifier: PA916060072
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167478
ClinVar RCV Id: RCV000153706 RCV000200664 RCV000780600 RCV003416003 RCV003474810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Arg3240Leu
CA234565
NM_170724.3:c.9719G>T