ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913198674
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
597716
ClinVar RCV Id:
RCV000733919
RCV000792413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Ser352Leu
CA350591519
NM_000784.4:c.1055C>T