ClinGen Allele Registry
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Canonical Allele Identifier:
PA110664
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4254
ClinVar RCV Id:
RCV000004476
RCV000733099
RCV001252457
RCV003398444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg479Cys
CA340210
NM_000784.4:c.1435C>T