ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915987037
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466005
ClinVar RCV Id:
RCV000548696
RCV001017287
RCV003999182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Pro367Ala
CA375367523
NM_001162426.2:c.1099C>G