Canonical Allele Identifier: PA098284
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377018
ClinVar RCV Id: RCV000444254 RCV000502876 RCV001336942 RCV003418109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile3177Thr
CA3851379
NM_138694.3:c.9530T>C