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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.[Phe526_Cys530delinsValTyrLeuArgLeu;Asp532del;Met534_Leu536delinsArgHisAla;Arg538_Thr545delinsGlyGlnGlyHis;Ala547del;Ala549_Gln554delinsLeuProHisArgGly]
CA16602345
ENST00000455727.6:c.1574dup