ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828093810
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406066
ClinVar RCV Id:
RCV000475183
RCV001021517
RCV001088738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Asp1253Asn
CA049735
NM_001363528.2:c.3757G>A