Canonical Allele Identifier: PA916059424
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly1712Arg
CA3852602
NM_170724.3:c.5134G>A
CA364428466
NM_170724.3:c.5134G>C