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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Glu609_Pro620del;Gly622_Asn624delinsIle;Cys626_Arg628delinsPheSerSer;Leu631del;Asn633_Tyr638delinsProSerGlnGluGlu]
CA2695228164
ENST00000535915.5:c.1825del