ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580174254
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2068171
ClinVar RCV Id:
RCV002970953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193784.1:p.Val20Ala
CA4386796
NM_001206855.3:c.59T>C