ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005283
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49344
ClinVar RCV Id:
RCV000042604
RCV000553605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Asp1587Tyr
CA021630
NM_001318827.2:c.4759G>T