ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828421134
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238061
ClinVar RCV Id:
RCV000415747
RCV000570208
RCV001088185
RCV003998833
RCV004532853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Val1556Met
CA052464
NM_001370405.1:c.4666G>A