ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA210046
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50148
ClinVar RCV Id:
RCV000043416
RCV000201026
RCV000414012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Gly1204Glu
CA019384
NM_000548.5:c.3611G>A