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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Cys209_Asp218delinsSerSerValArgLysAlaSerSerTrpThr;His220_Lys222delinsThrArgArgPro;Cys224_Gly228delinsArgLeuTrpAlaPro;Ile230_Phe235delinsProThrSerSerSerPro;Asn237_Arg238delinsGly]
CA645373247
NM_001195800.2:c.626del