ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830341203
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2741006
ClinVar RCV Id:
RCV003593497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742056.2:p.Ala410Thr
CA371466807
NM_172059.5:c.1228G>A