ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023177
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535900
ClinVar RCV Id:
RCV000644123
RCV002386073
RCV004003998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gly44Asp
CA394301452
NM_001318832.2:c.131G>A