ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825572425
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184186
ClinVar RCV Id:
RCV000163373
RCV000190050
RCV000765260
RCV001086110
RCV003995252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Asn187Ser
CA022534
NM_001114382.3:c.560A>G