ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658801630
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534453
ClinVar RCV Id:
RCV000642019
RCV001020300
RCV004003961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro1145Leu
CA037070
NM_000368.5:c.3434C>T