ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825438837
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2626432
ClinVar RCV Id:
RCV003382412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ala1479Val
CA394304934
NM_001077183.3:c.4436C>T