Canonical Allele Identifier: PA916059867
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Val2773Leu
CA3851664
NM_170724.3:c.8317G>T
CA364416571
NM_170724.3:c.8317G>C