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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.[Glu458Trp;Tyr461_Cys463delinsTrpLeu;Cys465_Asp472delinsVal;His474_Ala480del;Gly482_Leu487del]
CA10585309
ENST00000252444.10:c.1371_1372insTGGG