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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.[Asn677_Gly678delinsLysArg;Asn680_Leu685delinsGlnPro;Glu688_Ala692del;Pro694_Ser696del;Ala698_Trp706delinsGlyGly]
CA2697556247
ENST00000252444.10:c.2030dup