ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829972350
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468197
ClinVar RCV Id:
RCV000559621
RCV002384165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu332Lys
CA276776600
NM_021055.3:c.994G>A