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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Thr725_Ala730delinsGlnCysLeuThrLys;Gly732_Val734delinsTrp;Gly736_Asn739delinsThrLeuLeuAla;Lys741_Val746delinsGluMetArg;Ala748_Leu749del;Ile751Pro;Leu753_Pro754delinsAla]
CA2695228319
NM_001195799.2:c.2173del