ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828094976
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318335
ClinVar RCV Id:
RCV000340816
RCV000475549
RCV002338902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Asp1578Asn
CA053097
NM_001363528.2:c.4732G>A