ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA345174
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65840
ClinVar RCV Id:
RCV000056080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Val413Asp
CA345173
NM_000784.4:c.1238T>A