ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825956926
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051583
ClinVar RCV Id:
RCV001359646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Asn665His
CA375360893
NM_001162427.2:c.1993A>C