ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828421566
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1000279
ClinVar RCV Id:
RCV001751562
RCV001296392
RCV003294205
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Met1672Thr
CA054058
NM_001370405.1:c.5015T>C