ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827014694
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000435216
RCV001080300
RCV002257673
ClinVar Variation:
381049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr1016Met
CA048383
NM_001318831.2:c.3047C>T