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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.[Val382del;Ile384_Tyr385del;Leu387_Asn391del;Gln393_Leu400del;Leu402_Trp409del;Asp411_Val422del]
CA2573050609
NM_001195800.2:c.1145_1164del