ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA319443
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207715
ClinVar RCV Id:
RCV000189980
RCV000549657
RCV003380512
RCV003996883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Val461Met
CA319441
NM_000548.5:c.1381G>A