ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438015
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49522
ClinVar RCV Id:
RCV000042782
RCV000541237
RCV000764029
RCV001021518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Asp1252Val
CA019742
NM_001077183.3:c.3755A>T