Allele Registry

Canonical Allele Identifier: PA916048430

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000041392

RCV000763604

RCV001849294

RCV002243687

ClinVar Variation:

48106

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357262.1:p.Leu612Pro	CA262038 NM_001370333.1:c.1835T>C