ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828407270
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225350
ClinVar RCV Id:
RCV000490441
RCV003144163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357265.1:p.Gly247Val
CA4779689
NM_001370336.1:c.740G>T