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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512993.1:p.[Met1183_Leu1184delinsIle;Val1186_Glu1187insThrCysArg;Asn1188_Ile1192delinsGlnArgGlyAspArg;Asn1194_Val1207delinsHisTyrSerGlyArgGlnTyrTyrTrpSerPheGlySerSer;Tyr1209_Val1210delinsCysIle;Ser1212Cys]
CA16041033
XM_011514691.3:c.3545_3548dup