ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA3075061879
Gene: EYA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000494.2:p.Lys511Gln
CA371466191
NM_000503.5:c.1531A>C