ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825575426
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644133
RCV001019823
RCV001756075
RCV003459536
ClinVar Variation:
535906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val1102Met
CA045672
NM_001114382.3:c.3304G>A