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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512983.1:p.[Leu3136_Tyr3141delinsSerPheGlySerSer;Phe3143_Asn3148delinsCysIlePheCys;Val3150Thr;Lys3152_Val3153delinsPheArg;Ile3155_Asn3159delinsLys;Val3161_Val3163delinsAlaAspCys]
CA913110677
XM_011514681.1:c.9404dup