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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.[Leu542_Val548delinsProThrAlaSerLeuProMetThrPro;Tyr551_Asp552delinsAlaGlu;Val554_Ile555del;Asp558_Ala561delinsPro;Asp563Thr;Leu565_Ile574delinsTrpLeuTrpThrGlySerThrAlaThrSer]
CA10585430
ENST00000252444.10:c.1625_1634del