Allele Registry

Canonical Allele Identifier: PA2828407383

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000008403

ClinVar Variation:

7941

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357265.1:p.Leu498Arg	CA254276 NM_001370336.1:c.1493T>G