ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437728
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65142
ClinVar RCV Id:
RCV000055356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ser1163Ile
CA019399
NM_001077183.3:c.3488G>T