ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825954636
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_001155898.1:p.Pro1144Leu
CA037070
NM_001162426.2:c.3431C>T