ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825851422
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357750
ClinVar RCV Id:
RCV000297438
RCV000941634
RCV001828353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136273.1:p.Glu31Lys
CA3878130
NM_001142801.2:c.91G>A