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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.[Phe235_Met244delinsSerProThrGly;Leu246_Asp247del;Glu250_Leu258delinsGly;Asn260_Leu264del]
CA10585357
NM_001195800.2:c.704del
CA2695228162
NM_001195800.2:c.702del