ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645432035
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406036
ClinVar RCV Id:
RCV000477560
RCV002255385
RCV004000705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro543Ser
CA16615046
NM_000548.5:c.1627C>T