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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866434.1:p.[Cys3116_Phe3122delinsSerIleValProGluSer;Phe3125_Ala3132delinsSerTrpLeuSerArgThrLeuThr;Leu3134_His3135del;Glu3137_Ile3145delinsProCysTyrMet]
CA2529619496
XM_017010945.2:c.9345_9346insAGTAT