ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829977554
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65065
ClinVar RCV Id:
RCV000055272
RCV000574785
RCV000533205
RCV001531839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg917Gln
CA018086
NM_021055.3:c.2750G>A