ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580234375
Gene: ENO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2189579
ClinVar RCV Id:
RCV002636834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361453.1:p.Ala195Thr
CA8316349
NM_001374524.1:c.583G>A