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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Ile624_Ile628delinsSerThrLysPro;Ala631_Leu634delinsValPro;Gly636Ala;Asp638Gln;Asn640_Asn645delinsProMetSerThrCysTrp;Leu647_Ser648delinsLysThrTyrCys;Glu650_Val653delinsGlnArgIleTrpPhe]
CA2582475368
ENST00000558518.6:c.1870del