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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512987.1:p.[Cys3141_Phe3147delinsSerIleValProGluSer;Phe3150_Ala3157delinsSerTrpLeuSerArgThrLeuThr;Leu3159_His3160del;Glu3162_Ile3170delinsProCysTyrMet]
CA2529619496
XM_011514685.1:c.9420_9421insAGTAT