ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827007800
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237986
ClinVar RCV Id:
RCV000230681
RCV002315685
RCV002261015
RCV003998813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser709Cys
CA10583307
NM_001318829.2:c.2126C>G