ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439586
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406048
ClinVar RCV Id:
RCV001023801
RCV000497304
RCV001087863
RCV004000709
RCV004533164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg1684Cys
CA054573
NM_001077183.3:c.5050C>T