Canonical Allele Identifier: PA916059701
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406887
ClinVar RCV Id: RCV000457585 RCV000729736 RCV001844833 RCV003334387 RCV003942478
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Cys2422Gly
CA3851986
NM_170724.3:c.7264T>G