ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828091867
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000228760
RCV003153525
RCV003165605
ClinVar Variation:
237975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ala675Thr
CA10583300
NM_001363528.2:c.2023G>A