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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512984.1:p.[Gly3132_Tyr3138delinsTrpSerPheGlySerSer;Phe3140_Asn3145delinsCysIlePheCys;Val3147Thr;Lys3149_Val3150delinsPheArg;Ile3152_Asn3156delinsLys;Val3158_Val3160delinsAlaAspCys]
CA2679078631
XM_011514682.3:c.9393dup