Canonical Allele Identifier: PA916059623
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197475
ClinVar RCV Id: RCV000224543 RCV000765886 RCV002282003 RCV001844816 RCV003917663
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly2285Glu
CA275271
NM_170724.3:c.6854G>A