ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015966
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
58489
ClinVar RCV:
RCV000042587
RCV001383217
ClinVar Variation:
49327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.His1376Tyr
CA021147
NM_001318831.2:c.4126C>T