ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827000736
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374159
ClinVar RCV Id:
RCV000415290
RCV000466469
RCV001197195
RCV002374622
RCV002285328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val259Met
CA16043501
NM_001318827.2:c.775G>A