ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825156107
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1015369
ClinVar RCV Id:
RCV001314219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro311Leu
CA375368726
NM_000368.5:c.932C>T