ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576486
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000042552
RCV000562910
RCV000713934
RCV001079491
ClinVar Variation:
49293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1427Arg
CA020293
NM_001114382.3:c.4280C>G