ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828418909
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2092647
ClinVar RCV Id:
RCV003008263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Lys906Glu
CA394279500
NM_001370405.1:c.2716A>G