Allele Registry

Canonical Allele Identifier: PA916048421

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000678554

RCV004554820

ClinVar Variation:

560446

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357262.1:p.Ala537Val	CA4779428 NM_001370333.1:c.1610C>T