ClinGen Allele Registry
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Canonical Allele Identifier:
PA916018513
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195937
ClinVar RCV Id:
RCV000176624
RCV000504628
RCV000665978
RCV000963176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Trp1837Ser
CA202035
NM_001292009.1:c.5510G>C