Canonical Allele Identifier: PA916059529
Gene: PKHD1 HGNC NCBI
ClinVar RCV:
RCV000550974
ClinVar Variation:
458603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Glu1995Gly
CA364417853
NM_170724.3:c.5984A>G