ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828411453
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318313
ClinVar RCV Id:
RCV000298128
RCV000461333
RCV000765263
RCV001012444
RCV003482249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro541Arg
CA031797
NM_001370404.1:c.1622C>G