ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827017068
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2449979
ClinVar RCV Id:
RCV003171907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val175Ile
CA394309096
NM_001318832.2:c.523G>A