ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829309335
Gene: CYP2R1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002943967
ClinVar Variation:
2067369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001387496.1:p.Ala173Thr
CA5896647
NM_001400567.1:c.517G>A