ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005498
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042731
RCV000190076
RCV000201065
RCV000491169
RCV000763368
RCV004537168
ClinVar Variation:
49471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg1640Trp
CA022213
NM_001318827.2:c.4918C>T