ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825439089
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2827016
ClinVar RCV Id:
RCV003628131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val1551Leu
CA394308223
NM_001077183.3:c.4651G>C