ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827002579
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406081
ClinVar RCV Id:
RCV000475520
RCV000492042
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala785Val
CA16614739
NM_001318827.2:c.2354C>T