ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825956541
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255948
ClinVar RCV Id:
RCV000246586
RCV000475779
RCV001658164
RCV002411112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Glu574Ala
CA10587021
NM_001162427.2:c.1721A>C