ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976174
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49235
ClinVar RCV Id:
RCV000042494
RCV000460965
RCV001016860
RCV001563228
RCV002271386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val963Met
CA018311
NM_001114382.3:c.2887G>A