ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019869
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043096
RCV001022358
RCV001050539
ClinVar Variation:
49830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser1398Gly
CA020332
NM_001318832.2:c.4192A>G