ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827008800
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043035
RCV000190021
RCV000190880
RCV002453340
RCV002490595
RCV004537174
ClinVar Variation:
49770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1108Trp
CA019313
NM_001318829.2:c.3322C>T