Canonical Allele Identifier: PA2825850682
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2023602
ClinVar RCV Id: RCV002875892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Lys2329Asn
CA3876860
NM_001142800.2:c.6987G>C
CA364388362
NM_001142800.2:c.6987G>T