ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828092322
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000458103
RCV001015427
RCV001119144
RCV003477947
RCV004539938
ClinVar Variation:
406060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ser802Gly
CA038952
NM_001363528.2:c.2404A>G