ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023448
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000540723
RCV002384163
RCV003992321
ClinVar Variation:
467858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Tyr440Cys
CA029149
NM_001318832.2:c.1319A>G