ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825573315
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237964
ClinVar RCV Id:
RCV000231211
RCV000765262
RCV001011245
RCV001589172
RCV003998801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Arg458Gln
CA10583294
NM_001114382.3:c.1373G>A