Canonical Allele Identifier: PA355184
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220094
ClinVar RCV Id: RCV000204043 RCV000224330 RCV000242191 RCV001292516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val3193Ile
CA348314
NM_138694.3:c.9577G>A