ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015531
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055449
RCV000166370
RCV000518605
RCV000813618
RCV003996481
ClinVar Variation:
65229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Val1256Met
CA020558
NM_001318831.2:c.3766G>A