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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Met611_Asn616delinsIleGlySer;Thr618Pro;Arg621_Glu627delinsHisProAlaLys;Thr629_Leu631del;Asn633_Tyr638delinsGlu;Cys640Val]
CA2580096613
ENST00000535915.5:c.1832dup