This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CYP27B1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000228606.4:p.[Arg120_Ala123delinsGlyLeuAlaAsp;Gly125Ser;Leu127_Thr128delinsArgLys;Glu130delinsLysAsn;Glu132_Leu144delinsLysGlySerAlaValSerTrpProArgSerSerSerGly;Leu146Lys;Gln149del;Ala151_Ala152del]
CA2619519433
ENST00000228606.9:c.358_364del