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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Gly844_Tyr845delinsProArgTrp;Tyr847_Ser849delinsValTrpArg;Met850_Val851insThrTrpArgGluHisLeuProGly;Val851_Ser852insPro;Leu853_Glu854insProArgThrLeuPro;Asp855_Val857delinsThrSerPro]
CA2499225335
NM_001195798.2:c.2530_2542del