Canonical Allele Identifier: PA098264
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501331
ClinVar RCV Id: RCV000594992 RCV000671717 RCV001653942 RCV002282260
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile3081Val
CA3851426
NM_138694.3:c.9241A>G