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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.[Glu394_Asn398del;Ile400_Tyr401del;Ser403_Met409delinsProAla;Cys411Glu;Gln414Gly;Asp416_Ser423delinsThrCysProArgGlu]
CA10585394
NM_001195799.2:c.1180del