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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.[Val483_Gly488del;Tyr491_Gly496delinsAlaSerCysThrGlyLeu;Pro498_Lys503del;Gly505Glu;Asn507_Val515delinsProProArgSerArgLysGlyAla]
CA645509281
NM_001195799.2:c.1447_1456del