ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827017405
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_001305761.1:p.Val307Met
CA16043501
NM_001318832.2:c.919G>A