ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828059351
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207629
ClinVar RCV Id:
RCV000189843
RCV000642034
RCV002372157
RCV003996855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Thr179Ala
CA319286
NM_001362177.1:c.535A>G