ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825439196
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49458
ClinVar RCV Id:
RCV000042718
RCV002514167
RCV001557106
RCV003224798
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ile1581Thr
CA021368
NM_001077183.3:c.4742T>C