ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA262741
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49529
ClinVar RCV Id:
RCV000042789
RCV000254034
RCV001069687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Trp1208Gly
CA019409
NM_000548.5:c.3622T>G