ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828421066
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50095
ClinVar RCV Id:
RCV000043361
RCV000820413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Leu1535Pro
CA020960
NM_001370405.1:c.4604T>C