ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827011918
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644133
RCV001019823
RCV001756075
RCV003459536
ClinVar Variation:
535906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Val1010Met
CA045672
NM_001318829.2:c.3028G>A