Canonical Allele Identifier: PA149511
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96403
ClinVar RCV Id: RCV000082553 RCV000229420 RCV000224846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Glu1448Gly
CA149510
NM_138694.3:c.4343A>G