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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Cys463_Asp472delinsSerSerValArgLysAlaSerSerTrpThr;His474_Lys476delinsThrArgArgPro;Cys478_Gly482delinsArgLeuTrpAlaPro;Ile484_Phe489delinsProThrSerSerSerPro;Asn491_Arg492delinsGly]
CA645373247
ENST00000252444.10:c.1388del