ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828095114
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486644
ClinVar RCV Id:
RCV000567505
RCV001065808
RCV001764691
RCV003465277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Asn1615Asp
CA394311437
NM_001363528.2:c.4843A>G