ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827322829
Gene: EPSTI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219332
ClinVar RCV Id:
RCV000203801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317472.1:p.Thr117Ile
CA348075
NM_001330543.2:c.350C>T