ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340222
Gene: CYP27A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19305
ClinVar RCV:
RCV000004487
RCV000518366
RCV003430633
ClinVar Variation:
4266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Thr339Met
CA340221
NM_000784.4:c.1016C>T