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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Phe715_Asn726delinsTyrGlnCysGlnProProHisArgPheArgCysGln;Leu728_Met738del;Leu740_Leu744delinsGly]
CA645373238
ENST00000252444.10:c.2143_2144insA