ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828093641
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318328
ClinVar RCV Id:
RCV000356278
RCV000470026
RCV001020999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Arg1202Trp
CA048198
NM_001363528.2:c.3604C>T