ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827010727
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65229
ClinVar RCV Id:
RCV000055449
RCV000166370
RCV000813618
RCV000518605
RCV003996481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Val1385Met
CA020558
NM_001318829.2:c.4153G>A