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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Asp118_Ser123delinsPhe;Gln125_Phe126delinsTrpGlu;Cys128_Cys134delinsHis;Asp136_Gly137del;Asp139_Glu140del;Ser142_Val145delinsValArg;Thr147del]
CA2573050568
ENST00000558013.5:c.351_352insTTCC