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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.[Gly787_Leu790del;Arg792_Ser796delinsCys;Leu798_Ala806delinsTrpProGly;Gln808_Lys816del]
CA2573050620
ENST00000252444.10:c.2360del