ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011777
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055437
RCV001730486
RCV002381358
ClinVar Variation:
65217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Val134Ala
CA013517
NM_001318831.2:c.401T>C