ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438546
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406108
ClinVar RCV Id:
RCV000458065
RCV001022436
RCV001529238
RCV004000720
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg1403Cys
CA051067
NM_001077183.3:c.4207C>T