ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829981273
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000472949
RCV002256249
RCV003237849
RCV004000721
ClinVar Variation:
406115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1427His
CA16614762
NM_021055.3:c.4280G>A