ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828093840
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448730
ClinVar RCV Id:
RCV000516748
RCV001857933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Gly1259Asp
CA049827
NM_001363528.2:c.3776G>A