ClinGen Allele Registry
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Canonical Allele Identifier:
PA916018596
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143116
ClinVar RCV Id:
RCV000132637
RCV000938878
RCV003330509
RCV003888558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Ile3091Thr
CA270072
NM_001292009.1:c.9272T>C