ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023974
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49586
ClinVar RCV Id:
RCV000042847
RCV000201152
RCV002433527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala900Val
CA017841
NM_001318832.2:c.2699C>T