ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825576837
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051582
ClinVar RCV Id:
RCV001359645
RCV004036738
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Thr1519Ile
CA394304843
NM_001114382.3:c.4556C>T