ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827002074
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237976
ClinVar RCV Id:
RCV000231534
RCV000605322
RCV000571411
RCV002478840
RCV003477796
RCV004532842
RCV003998807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val642Met
CA035939
NM_001318827.2:c.1924G>A