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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Val524_Gly529del;Tyr532_Gly537delinsAlaSerCysThrGlyLeu;Pro539_Lys544del;Gly546Glu;Asn548_Val556delinsProProArgSerArgLysGlyAla]
CA645509281
ENST00000558518.6:c.1570_1579del