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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.[Ser457_Asn464delinsTyrLeuLysHisArgCysGlnArg;Gly466_Leu472delinsGlnPro;Glu475_Ala479del;Pro481_Ser483del;Ala485_Phe487delinsGlyGly]
CA2830773958
ENST00000545707.5:c.1370_1371del