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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Ser280_Ser281delinsIleAla;Cys283_Ser284del;Phe286_Leu291delinsArgPro;Gly293_His297del;Trp300_Lys309delinsThrAla]
CA993532450
ENST00000252444.10:c.839del