ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438481
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043095
RCV000190032
RCV001022345
RCV001088217
ClinVar Variation:
49829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ser1385Leu
CA020322
NM_001077183.3:c.4154C>T