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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Met525_Asn530delinsIleGlySer;Thr532Pro;Arg535_Glu536delinsHisPro;Glu538_Val549delinsLys;Leu551_Ser554delinsGly]
CA2580096613
NM_001195803.2:c.1574dup