ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023672
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000227968
ClinVar Variation:
237972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala625Pro
CA10583299
NM_001318832.2:c.1873G>C