ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828418704
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
75851
ClinVar RCV:
RCV000055123
RCV001253278
ClinVar Variation:
64921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Leu844Pro
CA017563
NM_001370405.1:c.2531T>C