Canonical Allele Identifier: PA645510221
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 438211
ClinVar RCV Id: RCV000504943 RCV000513566 RCV000625446 RCV001074080 RCV001277019 RCV001700135 RCV003915401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Ser326Asn
CA3877908
NM_001142800.2:c.977G>A