ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828413370
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406107
ClinVar RCV Id:
RCV000462249
RCV000569265
RCV002056709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ser1088Leu
CA046484
NM_001370404.1:c.3263C>T