ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573063723
Gene: CYP27B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000776.1:p.Ala129Val
CA385507516
NM_000785.4:c.386C>T