ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829972467
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405959
ClinVar RCV Id:
RCV000460360
RCV002402240
RCV004000679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Tyr349Cys
CA16614703
NM_021055.3:c.1046A>G