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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Cys95_Glu101delinsTrpArg;Gly103_Val106delinsArgLeuArgArg;Thr108_Cys109del;Pro111_Gln115delinsLeuSer;Ser117_Asp118del;Asn120_Gly124delinsHisLeuSerPro]
CA2695223185
NM_001195803.2:c.284dup