ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658801035
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501139
ClinVar RCV Id:
RCV000712499
RCV001498426
RCV002395534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Val50Ile
CA2112521
NM_000784.4:c.148G>A