ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573197322
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1392579
ClinVar RCV Id:
RCV001911286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Thr2559Ala
CA364384929
NM_001292009.1:c.7675A>G