Allele Registry

Canonical Allele Identifier: PA2828407130

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000008402

RCV003593858

ClinVar Variation:

7940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357264.1:p.Ser487Pro	CA254274 NM_001370335.1:c.1459T>C