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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866433.1:p.Trp2398Cys
CA364423234
XM_017010944.2:c.7194G>T
CA364423243
XM_017010944.2:c.7194G>C