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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.[Asp707del;Ser709_Leu711delinsPro;Ala714_Pro716delinsCysLeu;Leu718_Met726delinsProProLeuGly;His728_Ala735delinsProArgTrpArg]
CA2497030104
ENST00000535915.5:c.2115del