ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013958
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013213
RCV000042962
RCV000482063
RCV001536008
RCV002426499
ClinVar Variation:
12404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg705Trp
CA017942
NM_001318831.2:c.2113C>T