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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Pro531_Ala537del;Asp539_Leu544del;Glu546del;Glu548_Ala552delinsCysCysTrpProGly;Gln554_Arg560del]
CA10585772
NM_001195800.2:c.1592del