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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Glu596_Val600del;Leu602_Gln612del;Thr614_Arg617del;Val619del;Asp621_Thr622del;Arg624_Leu625delinsGly]
CA10585796
XM_011528011.1:c.1786del