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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Val445_Trp452delinsSerCysAla;Asp454_Asn464delinsLeu;Leu466del;Gly468del;Asp470_Leu473delinsCys]
CA2548564454
ENST00000455727.6:c.1331_1332insGTCCTGCGCCACGTTGCGCACCTCGTGCT...