ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210083
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000539.2:p.Ala889Val
NM_000548.5:c.2666C>T