ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645413283
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411257
ClinVar RCV Id:
RCV000473830
RCV000491881
RCV001090688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Gly639Val
CA030103
NM_000368.5:c.1916G>T