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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Arg604_Leu605del;His607Gly;Phe609_Ser610delinsProLeu;Ala612_Arg633delinsLeuGlyArgLeu]
CA2580613055
NM_000527.5:c.1810_1811del