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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.[Ser554Arg;Thr556del;Val558_Thr560delinsPro;His562_Arg566del;Pro569_Val584del]
CA2573156038
ENST00000545707.5:c.1657_1661dup