ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741819215
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3046752
ClinVar RCV Id:
RCV003934593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Ser341del
CA539840596
NM_000784.4:c.1020_1022del