ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426065
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287315
ClinVar RCV Id:
RCV000392907
RCV000397130
RCV003165751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Leu81Met
CA2112538
NM_000784.4:c.241C>A