ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828093397
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535949
ClinVar RCV Id:
RCV000644185
RCV003162914
RCV004004011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ser1127Leu
CA394289260
NM_001363528.2:c.3380C>T