ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019719
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207753
ClinVar RCV Id:
RCV000491452
RCV000713933
RCV001087398
RCV003996896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gly1352Val
CA050682
NM_001318832.2:c.4055G>T