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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.[Ile458_Gly465delinsAsnLeuLysHisArgCysGlnArg;Asn467_Leu472delinsGlnPro;Glu475_Ala479del;Pro481_Ser483del;Ala485_Phe487delinsGlyGly]
CA2497030089
XM_011528011.1:c.1372dup