ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018474
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195666
ClinVar RCV Id:
RCV000176282
RCV000673072
RCV001075858
RCV001277985
RCV003422070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Thr1084Pro
CA242183
NM_001292009.1:c.3250A>C