ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010790
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
516774
ClinVar RCV Id:
RCV000729897
RCV001024992
RCV001087306
RCV002469218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Val158Ile
CA055776
NM_001318829.2:c.472G>A