ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827004540
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135388
ClinVar RCV Id:
RCV000122237
RCV000706466
RCV001022523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala1386Thr
CA020493
NM_001318827.2:c.4156G>A