Allele Registry

Canonical Allele Identifier: PA2826707902

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000678554

RCV004554820

ClinVar Variation:

560446

HGVS (amino-acid)	Matching Registered Transcripts
NP_001275504.1:p.Ala386Val	CA4779428 NM_001288575.2:c.1157C>T