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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Ser486_Trp490delinsAla;Asp492del;Val494_Gly496delinsThrGlyPro;Val498Leu;Val500Trp;Asp502_Lys507delinsLeuSerLeuLeu;Lys509_Phe512delinsIlePro;Glu514_Asn515delinsAla]
CA645373231
ENST00000557933.5:c.1456del