ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801039
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501951
ClinVar RCV Id:
RCV000598426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Gln83Pro
CA2112539
NM_000784.4:c.248A>C