ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825436591
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49587
ClinVar RCV Id:
RCV000042848
RCV001250499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu808Ser
CA017395
NM_001077183.3:c.2423T>C