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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.[Arg406_Met412delinsGly;Leu414_Asp415del;Glu418_Leu426delinsGly;Asn428_Glu435del]
CA2695228165
ENST00000557933.5:c.1216del