ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827004061
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41739
ClinVar RCV Id:
RCV000034656
RCV000215282
RCV001081977
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala1246Val
CA019876
NM_001318827.2:c.3737C>T