ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827004108
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405949
ClinVar RCV Id:
RCV000713932
RCV002257693
RCV001086293
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val1260Ile
CA050403
NM_001318827.2:c.3778G>A