ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827010139
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406065
ClinVar RCV Id:
RCV000469448
RCV001023350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Lys1543Arg
CA16615040
NM_001318829.2:c.4628A>G