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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.[Ser543_Asn550delinsTyrLeuLysHisArgCysGlnArg;Gly552_Leu558delinsGlnPro;Glu561_Ala565del;Pro567_Ser569del;Ala571_Phe573delinsGlyGly]
CA2830773958
NM_001195799.2:c.1628_1629del