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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.[Asp834del;Ser836_Leu838delinsPro;Ala841_Pro843delinsCysLeu;Leu845_Met853delinsProProLeuGly;His855_Ala862delinsProArgTrpArg]
CA2497030104
ENST00000252444.10:c.2496del