ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827010458
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406048
ClinVar RCV Id:
RCV001023801
RCV000497304
RCV001087863
RCV004000709
RCV004533164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1636Cys
CA054573
NM_001318829.2:c.4906C>T