ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741818994
Gene: CYP27A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Met130Lys
CA350583513
NM_000784.4:c.389T>A