ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023655
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535880
ClinVar RCV Id:
RCV000644098
RCV001013286
RCV004003992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro616Leu
CA394272977
NM_001318832.2:c.1847C>T