ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827002754
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486642
ClinVar RCV Id:
RCV000571394
RCV001047205
RCV004001160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Pro837Leu
CA276741554
NM_001318827.2:c.2510C>T