ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA162590
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala357Val
CA013675
NM_000548.5:c.1070C>T