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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Glu271_Cys277delinsValArgAspGlnArgMet;Asp279_Asn281del;Gly283_Asp290delinsGlnGlnArgArg;Lys292_Cys297delinsPheProArg;Cys299_Asp301delinsGln]
CA10585205
ENST00000535915.5:c.812_813del