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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.[Asn464_Gly465delinsLysArg;Asn467_Leu472delinsGlnPro;Glu475_Ala479del;Pro481_Ser483del;Ala485_Trp493delinsGlyGly]
CA2697556247
ENST00000545707.5:c.1391dup