ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829976586
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50182
ClinVar RCV Id:
RCV000043451
RCV000430436
RCV001705694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro816Leu
CA017430
NM_021055.3:c.2447C>T