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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.[Ala561Thr;Asp563Thr;Leu565_Asp568delinsTrpLeu;Ile570_His571delinsThrGly;Asn573_Trp576delinsThrAlaThrSer;Asp578_Val580delinsGlyProThr;Gly582_Val584delinsSerTrpAlaLeu;Val586_Lys590delinsLeuLeuArgIleProArg]
CA10585446
ENST00000252444.10:c.1681_1682delinsA