ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264710
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65309
ClinVar RCV Id:
RCV000055531
RCV001388145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1044Lys
CA018596
NM_000548.5:c.3131G>A