ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426101
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334372
ClinVar RCV Id:
RCV000353347
RCV001699326
RCV002374576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Glu291Lys
CA2112751
NM_000784.4:c.871G>A