ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825957464
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411235
ClinVar RCV Id:
RCV000475479
RCV000829005
RCV001016277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Asn840Ser
CA16612565
NM_001162427.2:c.2519A>G