ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827001492
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421682
ClinVar RCV Id:
RCV001704636
RCV002402406
RCV001359632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ile494Met
CA16620088
NM_001318827.2:c.1482C>G