ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645431807
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406017
ClinVar RCV Id:
RCV000466214
RCV000572112
RCV002510893
RCV004000698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Val225Met
CA056118
NM_000548.5:c.673G>A