ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828418563
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467940
ClinVar RCV Id:
RCV000536678
RCV001755846
RCV001015392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Arg799Cys
CA394277095
NM_001370405.1:c.2395C>T