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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Met575_Ala578del;Asp580_Glu587delinsHis;Glu589del;Ala591_Gln595delinsGlyGlnGlyHisGlu;Thr597_Val600delinsLeuProHis;Leu602_Lys603delinsGly]
CA2580096709
XM_011528011.1:c.1718_1721dup