ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828416575
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486620
ClinVar RCV Id:
RCV000575507
RCV000686831
RCV001115886
RCV001538849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Pro232Leu
CA056163
NM_001370405.1:c.695C>T