ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828418811
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_001357334.1:p.Pro874Leu
CA276741554
NM_001370405.1:c.2621C>T