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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Cys250_Gln257del;Asp259del;His261_Ala267del;Gly269_Arg279del]
CA2322770745
ENST00000545707.5:c.748dup