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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Thr807_Val813delinsPro;Leu815_Val822del;Thr824_Gln825del;Thr827_Arg830del;Val832del;Asp834_Ser836delinsSerGly]
CA2739291176
ENST00000252444.10:c.2418del