ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020434
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Tyr1552Asn
CA10583339
NM_001318832.2:c.4654T>A