ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580116165
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2497447
ClinVar RCV Id:
RCV003213902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Met1615Val
CA394308148
NM_000548.5:c.4843A>G