Canonical Allele Identifier: PA2580509818
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly1053Arg
CA364441772
NM_170724.3:c.3157G>C
CA364441773
NM_170724.3:c.3157G>A