ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827018760
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1076Ala
CA394286595
NM_001318832.2:c.3226C>G