ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825437783
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486656
ClinVar RCV Id:
RCV000573539
RCV000644066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1183Ser
CA394292308
NM_001077183.3:c.3547C>T