ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825572853
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
465190
ClinVar RCV:
RCV000541726
RCV002377105
RCV003999344
ClinVar Variation:
468193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val319Met
CA394315689
NM_001114382.3:c.955G>A