ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA188026
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000163340
RCV000189966
RCV000229264
RCV000347186
RCV001721043
ClinVar Variation:
184164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala210Thr
CA022705
NM_000548.5:c.628G>A