ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828061362
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411284
ClinVar RCV Id:
RCV000474187
RCV001020266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Pro1021Ala
CA16612438
NM_001362177.1:c.3061C>G