Canonical Allele Identifier: PA645507726
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357457
ClinVar RCV Id: RCV000345554 RCV000598489 RCV003418077
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg92Gln
CA3853984
NM_138694.3:c.275G>A