ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018508
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281813
ClinVar RCV Id:
RCV000356774
RCV001833313
RCV003947838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Gly1779Ser
CA3877025
NM_001292009.1:c.5335G>A