ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA216412
Gene: SLC25A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64563
ClinVar RCV Id:
RCV000054750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005975.1:p.Ala233Thr
CA216411
NM_005984.5:c.697G>A