ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499246693
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1026338
ClinVar RCV Id:
RCV001326773
RCV001830385
RCV002546198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Asp2106Tyr
CA3876930
NM_001292009.1:c.6316G>T