Canonical Allele Identifier: PA916048430
Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48106
ClinVar RCV Id: RCV000041392 RCV000763604 RCV001849294 RCV002243687
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357262.1:p.Leu612Pro
CA262038
NM_001370333.1:c.1835T>C