Canonical Allele Identifier: PA098668
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4111
ClinVar RCV Id: RCV000004327 RCV000153715 RCV002287323 RCV001849254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val1741Met
CA234572
NM_138694.3:c.5221G>A