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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.[Asp136_Glu140delinsGluAlaGlnThrArgProPro;Ser142Arg;Cys143_Pro144insSer;Leu146_Gly149delinsValPro;Phe153_Ile161delinsSerAlaThrAlaProProAlaSer;Gln163_Ala166delinsSerCysGly]
CA2695223196
ENST00000558013.5:c.408del