ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439967
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000415290
RCV000466469
RCV001197195
RCV002285328
RCV002374622
ClinVar Variation:
374159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val296Met
CA16043501
NM_001077183.3:c.886G>A