ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825044650
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1468735
ClinVar RCV Id:
RCV001969143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Thr369Ile
CA5252878
NM_000118.3:c.1106C>T