ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829980966
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190079
RCV000695662
RCV001022271
RCV003462296
RCV003996900
ClinVar Variation:
207785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1395Trp
CA050835
NM_021055.3:c.4183C>T