ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801061
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500768
ClinVar RCV Id:
RCV000596057
RCV001429604
RCV004024796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Val264Met
CA2112717
NM_000784.4:c.790G>A