ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007319
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12397
ClinVar RCV Id:
RCV000013205
RCV000055317
RCV000042946
RCV000414340
RCV000491426
RCV000768118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg562Gln
CA015920
NM_001318829.2:c.1685G>A