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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.[Gly549_Cys554delinsAlaAlaSerIleCysAlaSer;Ala557_Asn561delinsArgArgSerThr;His563_Ser564delinsThrArg;Lys566_Ala578delinsSerLeuProAlaProAlaArgThrAlaCysCysTrpPro]
CA10576327
XM_011528011.1:c.1646del