ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829979784
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1735113
ClinVar RCV Id:
RCV002355213
RCV003102451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Asn1227His
CA394293629
NM_021055.3:c.3679A>C