ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658819158
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523415
ClinVar RCV Id:
RCV000626764
RCV000626799
RCV001270170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Glu2861Gly
CA364384583
NM_001292009.1:c.8582A>G