ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828094065
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
380381
ClinVar RCV Id:
RCV000426687
RCV003626619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Pro1323Ser
CA16607165
NM_001363528.2:c.3967C>T