ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825438138
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41739
ClinVar RCV Id:
RCV000034656
RCV000215282
RCV001081977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ala1282Val
CA019876
NM_001077183.3:c.3845C>T