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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Asn743_Leu744del;Gln746Ser;Arg748_Leu758del;Asn760_Cys763del;Tyr765_Gln772delinsGluGlu]
CA2497030097
ENST00000252444.10:c.2228del