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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866438.1:p.Arg140Cys
CA149502
XM_017010949.2:c.418C>T
CA3054209577
XM_017010949.2:c.417_418delinsGT