Allele Registry

Canonical Allele Identifier: PA2828407143

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000678554

RCV004554820

ClinVar Variation:

560446

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357264.1:p.Ala508Val	CA4779428 NM_001370335.1:c.1523C>T