ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825851127
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2286226
ClinVar RCV Id:
RCV002845278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Ala2865Thr
CA364384413
NM_001142800.2:c.8593G>A