Canonical Allele Identifier: PA645507866
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286801
ClinVar RCV Id: RCV000350995 RCV000819334 RCV002487239
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gln2167Lys
CA3852238
NM_138694.3:c.6499C>A