ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827014872
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64947
ClinVar RCV Id:
RCV000055150
RCV001853088
RCV002371894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Pro1071Ser
CA019722
NM_001318831.2:c.3211C>T