ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210053
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49471
ClinVar RCV Id:
RCV000042731
RCV000201065
RCV000190076
RCV000491169
RCV000763368
RCV004537168
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1743Trp
CA022213
NM_000548.5:c.5227C>T