ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA254273
Gene: EYA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008397
RCV000844628
RCV001849260
RCV002228019
RCV002288475
ClinVar Variation:
7935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742055.1:p.Arg440Gln
CA254271
NM_172058.4:c.1319G>A