Allele Registry

Canonical Allele Identifier: PA916048416

Gene: EYA1 HGNC NCBI

ClinVar RCV:

RCV000008402

RCV003593858

ClinVar Variation:

7940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357262.1:p.Ser516Pro	CA254274 NM_001370333.1:c.1546T>C