ClinGen Allele Registry
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Canonical Allele Identifier:
PA345194
Gene: CYP27A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056110
RCV001267948
RCV002251956
RCV003415826
ClinVar Variation:
65865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg127Trp
CA345193
NM_000784.4:c.379C>T