ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825156126
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1002179
ClinVar RCV Id:
RCV001298562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Arg316Leu
CA375368701
NM_000368.5:c.947G>T