ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438118
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000713931
RCV001087396
RCV002257482
RCV003996894
ClinVar Variation:
207750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Glu1277Lys
CA050233
NM_001077183.3:c.3829G>A