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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[His529_Leu531delinsSerSerThr;Gln533Ser;Arg535_Leu545del;Asn547_Cys550del;Tyr552_Pro558delinsGluGlu]
CA10585698
XM_011528011.1:c.1580_1584dup