ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA262677
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_000539.2:p.Ile1648Thr
CA021368
NM_000548.5:c.4943T>C