Allele Registry

Canonical Allele Identifier: PA274416

Gene: CYP21A2 HGNC NCBI

ClinVar RCV:

RCV000169566

RCV000711384

ClinVar Variation:

189145

HGVS (amino-acid)	Matching Registered Transcripts
NP_000491.4:p.[Ile237_Val238delinsAsnGlu;Met240Lys]	CA274415 NM_000500.9:c.710_719delinsACGAGGAGAA CA358448 NM_000500.9:c.[710T>A;713T>A;719T>A]