Allele Registry

Canonical Allele Identifier: PA2830341250

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000678554

RCV004554820

ClinVar Variation:

560446

HGVS (amino-acid)	Matching Registered Transcripts
NP_742056.2:p.Ala502Val	CA4779428 NM_172059.5:c.1505C>T