ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825955549
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207606
ClinVar RCV Id:
RCV000473657
RCV000575230
RCV001705059
RCV003996850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Met300Val
CA319232
NM_001162427.2:c.898A>G