Allele Registry

Canonical Allele Identifier: PA2828407373

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000008402

RCV003593858

ClinVar Variation:

7940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357265.1:p.Ser480Pro	CA254274 NM_001370336.1:c.1438T>C