ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645434080
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406016
ClinVar RCV Id:
RCV000456699
RCV000571397
RCV004000697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Val1407Met
CA050677
NM_000548.5:c.4219G>A