ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580117575
Gene: CYP27B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1948585
ClinVar RCV Id:
RCV002667850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000776.1:p.Pro353Ser
CA6658234
NM_000785.4:c.1057C>T