ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829979988
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000325835
RCV000567501
RCV000726912
RCV001079391
RCV004532850
ClinVar Variation:
238031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu1264Lys
CA049623
NM_021055.3:c.3790G>A