Canonical Allele Identifier: PA916058622
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813394
ClinVar RCV Id: RCV001004217 RCV001732010 RCV002290520 RCV003461308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly223Ser
CA3853829
NM_170724.3:c.667G>A