Canonical Allele Identifier: PA645507742
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290975
ClinVar RCV Id: RCV000328110 RCV001034258
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg312Gln
CA3853697
NM_138694.3:c.935G>A