ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825437769
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1733712
ClinVar RCV Id:
RCV002452586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Asp1178Tyr
CA394292119
NM_001077183.3:c.3532G>T