ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432054
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406014
ClinVar RCV Id:
RCV000469836
RCV002274032
RCV001013015
RCV004000695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg585Cys
CA033336
NM_000548.5:c.1753C>T