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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866435.1:p.[Gly3113_Tyr3119delinsTrpSerPheGlySerSer;Phe3121_Asn3126delinsCysIlePheCys;Val3128Thr;Lys3130_Val3131delinsPheArg;Ile3133_Asn3137delinsLys;Val3139_Val3141delinsAlaAspCys]
CA2679078631
XM_017010946.2:c.9336dup