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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.[Thr702_Val705delinsProAspLeuPhe;Asp707del;Ser709_Leu711delinsPro;Ala714_Pro716delinsCysLeu;Leu718_Met726delinsProProLeuGly;His728_Leu731delinsProArgTrpArg]
CA10585810
ENST00000535915.5:c.2103del