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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Leu203_His220delinsArgThrTrpArgValAlaThrSerAlaSerValArgLysAlaSerSerTrpThrPro;Lys222delinsArgArgPro;Cys224_Gly228delinsArgLeuTrpAlaPro;Ile230_Tyr232delinsProThr]
CA2573050592
ENST00000455727.6:c.603_607dup