ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437126
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49241
ClinVar RCV Id:
RCV000042500
RCV000201071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg988Pro
CA018497
NM_001077183.3:c.2963G>C