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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.[Asn553_Leu558delinsGluPro;Glu561_Ala565del;Pro567_Ser569del;Ala571_Ile582delinsGlyGly]
CA2497030090
NM_001195799.2:c.1656_1657insG