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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.[Asp204_Ser209delinsPhe;Gln211_Phe212delinsTrpGlu;Cys214_Cys220delinsHis;Asp222_Gly223del;Asp225_Glu226del;Ser228_Val231delinsValArg;Thr233del]
CA2573050568
ENST00000252444.10:c.609_610insTTCC