ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023579
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467887
ClinVar RCV Id:
RCV000542715
RCV002395406
RCV003314613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Asp560Gly
CA394267934
NM_001318832.2:c.1679A>G