ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827003545
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000534200
RCV001574195
RCV002258956
ClinVar Variation:
468020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Pro1096Ser
CA394289363
NM_001318827.2:c.3286C>T