ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018503
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357706
ClinVar RCV Id:
RCV000902508
RCV001274974
RCV000399578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Thr1714Pro
CA10624519
NM_001292009.1:c.5140A>C