ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139698851
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
834264
ClinVar RCV Id:
RCV001034911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Ser2849del
CA916082857
NM_001292009.1:c.8546_8548del