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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Gln571_His572delinsSer;Thr574_Arg576delinsGln;Val578del;Thr581_Leu584delinsLeuPheProThr;Gly586_Pro589delinsProGlyCysLeu;Leu591_Ser600delinsProProLeuGlySerProArgTrpArg]
CA1139768693
ENST00000455727.6:c.1710del