ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825573425
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423778
ClinVar RCV Id:
RCV000478401
RCV000691424
RCV003343855
RCV003470587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ser494Phe
CA030798
NM_001114382.3:c.1481C>T