ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825577563
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187484
ClinVar RCV Id:
RCV000167217
RCV000526320
RCV002492675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ile1712Ser
CA022137
NM_001114382.3:c.5135T>G