ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827010182
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002267440
RCV003512143
ClinVar Variation:
1697094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro1560Arg
CA394311261
NM_001318829.2:c.4679C>G