ClinGen Allele Registry
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Canonical Allele Identifier:
PA110645
Gene: CYP27A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19297
ClinVar RCV:
RCV000004480
RCV001650828
RCV003415650
ClinVar Variation:
4258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg474Gln
CA340214
NM_000784.4:c.1421G>A