ClinGen Allele Registry
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Canonical Allele Identifier:
PA658801047
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498357
ClinVar RCV Id:
RCV000594613
RCV000765608
RCV003420031
RCV004024736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg164Pro
CA2112625
NM_000784.4:c.491G>C