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Canonical Allele Identifier: Get Identifier
Gene: CYP27A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000775.1:p.[Asp354_Val365delinsAlaLeuArgSerArgArgProCysThrArgLysTrpTrp;Gly367_Val369delinsTrpCysGln;Ala371del;Gln373_Val374delinsLysCys;Gln376_Met383delinsSerThrArgThrLeuProThrCys]
CA2580065749
NM_000784.4:c.1061del