ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827008577
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000465409
RCV002451089
ClinVar Variation:
406114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gly1031Glu
CA16614770
NM_001318829.2:c.3092G>A