ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825917646
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2866133
ClinVar RCV Id:
RCV003614962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Glu422Lys
CA375366224
NM_001162426.2:c.1264G>A