ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345163
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65834
ClinVar RCV Id:
RCV000056074
RCV000593893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg395His
CA345162
NM_000784.4:c.1184G>A