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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Ala824_Trp825delinsPro;Ser827_Tyr830del;Arg832_Gly835del;Arg837_Thr838delinsPro;Thr840_Thr843delinsMetGluGlu;Thr845_Gln853delinsAlaAla]
CA2695228330
ENST00000557933.5:c.2470del