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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Tyr535_Ile544delinsThrGlyLeuThrProAsnPheThrPro;Ser546_Gly551delinsGlnAlaSerMetSerThr;Asn553_Glu561delinsAlaThrGlyArgProSerTrpArgMet;Leu564delinsGlyTrp]
CA2497030087
NM_001195799.2:c.1603del