ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580189012
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_001278938.1:p.Ala2886Thr
CA364384413
NM_001292009.1:c.8656G>A