ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020576
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000042718
RCV001557106
RCV002514167
RCV003224798
ClinVar Variation:
49458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ile1592Thr
CA021368
NM_001318832.2:c.4775T>C