ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023179
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207654
ClinVar RCV Id:
RCV000189880
RCV000475609
RCV001009700
RCV003996860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Lys45Thr
CA027975
NM_001318832.2:c.134A>C