Canonical Allele Identifier: PA645507828
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289823
ClinVar RCV Id: RCV000340674 RCV000402008 RCV002502151 RCV004021291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg1390Gln
CA3852766
NM_138694.3:c.4169G>A