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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.[Tyr232_Phe235delinsGly;Asn237del;His239_Arg248del;Glu250_Leu258delinsGly;Asn260_Glu267del]
CA2695238665
NM_001195800.2:c.694_712del