ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827009914
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49956
ClinVar RCV Id:
RCV000043223
RCV002298454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gly1464Ser
CA020963
NM_001318829.2:c.4390G>A