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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.[Thr820del;Val822_Thr824delinsPro;His826_Arg830del;Val832_Val848del]
CA2573156039
ENST00000252444.10:c.2452_2456dup