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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Cys250_Asp259delinsSerSerValArgLysAlaSerSerTrpThr;His261_Lys263delinsThrArgArgPro;Cys265_Gly269delinsArgLeuTrpAlaPro;Ile271_Phe276delinsProThrSerSerSerPro;Asn278_Arg279delinsGly]
CA645373247
ENST00000545707.5:c.749del