Canonical Allele Identifier: PA916059339
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287201
ClinVar RCV Id: RCV000328052 RCV000675159 RCV003391051 RCV003475914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Cys1431Tyr
CA3852742
NM_170724.3:c.4292G>A