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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.[Phe741_Leu744delinsSerThr;Gln746Ser;Arg748_Leu758del;Asn760_Cys763del;Tyr765_Ala770delinsGluGlu]
CA10585699
ENST00000252444.10:c.2222del