ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019321
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468046
ClinVar RCV Id:
RCV001121242
RCV000546530
RCV002358537
RCV004541711
RCV001531843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala1241Val
CA276752704
NM_001318832.2:c.3722C>T