Allele Registry

Canonical Allele Identifier: PA262039

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000041392

RCV000763604

RCV001849294

RCV002243687

ClinVar Variation:

48106

HGVS (amino-acid)	Matching Registered Transcripts
NP_742055.1:p.Leu583Pro	CA262038 NM_172058.4:c.1748T>C