ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345223
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65885
ClinVar RCV Id:
RCV000056130
RCV001268441
RCV003964910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Ala216Pro
CA345222
NM_000784.4:c.646G>C