ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580116607
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2416226
ClinVar RCV Id:
RCV003106975
RCV003384352
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Tyr1736Cys
CA394314314
NM_000548.5:c.5207A>G