ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437752
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1715087
ClinVar RCV Id:
RCV002299379
RCV002346581
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu1172Phe
CA394291933
NM_001077183.3:c.3514C>T