ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA263097
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50052
ClinVar RCV Id:
RCV000043318
RCV000713940
RCV000989438
RCV002336165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu1562Pro
CA020902
NM_000548.5:c.4685T>C