ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463189
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425383
ClinVar RCV Id:
RCV000487546
RCV001199691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Cys2679Gly
CA16621840
NM_001142800.2:c.8035T>G