Canonical Allele Identifier: PA645507740
Gene: PKHD1 HGNC NCBI
ClinVar RCV:
RCV000275791
ClinVar Variation:
357453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val302Met
CA3853704
NM_138694.3:c.904G>A