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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512986.1:p.Arg523Cys
CA149502
XM_011514684.3:c.1567C>T
CA3054209577
XM_011514684.3:c.1566_1567delinsGT