ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828094243
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001929846
ClinVar Variation:
1365523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Gly1377Ser
CA394301372
NM_001363528.2:c.4129G>A