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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Ser290_Tyr292del;Ser294_Val303delinsGly;Leu305_Asp306delinsSer;Glu308_Val309delinsPro;Asn312_Trp316del;Asp318_Leu319delinsProThr]
CA10585374
NM_001195803.2:c.864_868dup