ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828093301
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000468447
RCV001020274
RCV001721236
ClinVar Variation:
207745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Asp1100Val
CA319512
NM_001363528.2:c.3299A>T