ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825571960
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486649
ClinVar RCV Id:
RCV000574862
RCV003626626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ile44Val
CA394301772
NM_001114382.3:c.130A>G