Allele Registry

Canonical Allele Identifier: PA2830341249

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000008403

ClinVar Variation:

7941

HGVS (amino-acid)	Matching Registered Transcripts
NP_742056.2:p.Leu499Arg	CA254276 NM_172059.5:c.1496T>G