ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827017387
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207707
ClinVar RCV Id:
RCV000527430
RCV000568400
RCV004537594
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala300Val
CA056623
NM_001318832.2:c.899C>T