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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Val610_Gly615del;Tyr618_Gly623delinsAlaSerCysThrGlyLeu;Pro625_Lys630del;Gly632Glu;Asn634_Val642delinsProProArgSerArgLysGlyAla]
CA645509281
ENST00000252444.10:c.1828_1837del