ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658801074
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498030
ClinVar RCV Id:
RCV000596853
RCV001243512
RCV003420030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg479His
CA2112895
NM_000784.4:c.1436G>A