ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437196
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2564615
ClinVar RCV Id:
RCV003297047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Thr1013Ala
CA394285439
NM_001077183.3:c.3037A>G