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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.[Asp462_Asn464del;Gly466_Asn467delinsGln;Lys469_Leu472delinsGlyGlnPro;Glu475_Ala479del;Pro481_Ser483del;Ala485_Phe492delinsGlyGly]
CA10585604
XM_011528011.1:c.1385_1386del