ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827017980
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2102988
ClinVar RCV Id:
RCV003019802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro677Ala
CA394274424
NM_001318832.2:c.2029C>G