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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Ser732Arg;Thr734del;Val736_Thr738delinsPro;His740_Arg744del;Pro747_Val762del]
CA2573156038
ENST00000558013.5:c.2191_2195dup