ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825851573
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357746
ClinVar RCV Id:
RCV000352873
RCV001247398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136273.1:p.Cys211Phe
CA3878045
NM_001142801.2:c.632G>T