ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828092217
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467936
ClinVar RCV Id:
RCV000544312
RCV000571953
RCV003225085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ala772Val
CA038376
NM_001363528.2:c.2315C>T