ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829980199
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000122231
RCV000227253
RCV000350281
RCV000490949
RCV000858996
RCV004542922
ClinVar Variation:
135385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1293Leu
CA019831
NM_021055.3:c.3878C>T