ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438762
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
825015
ClinVar RCV Id:
RCV001022728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ser1459Thr
CA394304356
NM_001077183.3:c.4375T>A