ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA162608
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135380
ClinVar RCV Id:
RCV000122224
RCV000820253
RCV001020564
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr1181Met
CA019264
NM_000548.5:c.3542C>T