ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264554
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65084
ClinVar RCV Id:
RCV000055294
RCV000544349
RCV000567865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg585His
CA015651
NM_000548.5:c.1754G>A