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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.[Tyr188_Asp193del;Ser195_Cys204del;Ser206_Trp214delinsArgValPro;Cys216_Asp217delinsGlyGln]
CA2695238654
NM_000527.5:c.559_562dup