ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658818856
Gene: EPS8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
508572
ClinVar RCV Id:
RCV000953310
RCV000606854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004438.3:p.Ala705Thr
CA6467353
NM_004447.6:c.2113G>A