ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009593
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405956
ClinVar RCV Id:
RCV000458532
RCV000500804
RCV001022474
RCV004000678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala1364Thr
CA16615031
NM_001318829.2:c.4090G>A