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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Ser123_Cys134del;Asp136_Gly137del;Asp139_Glu140del;Ser142_Val145delinsValArg;Thr147_Ser152del]
CA10584878
NM_000527.5:c.366dup