Canonical Allele Identifier: PA2580510037
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Cys1692Ser
CA364428800
NM_170724.3:c.5075G>C
CA364428806
NM_170724.3:c.5074T>A