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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.[Asn690_Gln702del;Thr704_Thr705del;Asp707_Val709del;Ile711_Cys712delinsGlnGln;Asn714del;Asp716_Ser719delinsLeu]
CA023673
XM_011528011.1:c.2066_2069dup