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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.[Met652_Leu658delinsThr;Gln660Ser;Arg662_Leu672del;Asn674_Cys677del;Tyr679_Pro685delinsGluGlu]
CA2697556254
ENST00000557933.5:c.1953_1965del