ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827000568
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400650
ClinVar RCV:
RCV000472885
RCV000565481
RCV001584139
RCV004000689
ClinVar Variation:
405992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg208Cys
CA056249
NM_001318827.2:c.622C>T