ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828406904
Gene: EYA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000041389
ClinVar Variation:
48103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357263.1:p.Tyr527Asn
CA262034
NM_001370334.1:c.1579T>A