ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828094971
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49910
ClinVar RCV Id:
RCV000043177
RCV000478359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Asn1577His
CA021298
NM_001363528.2:c.4729A>C