ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023887
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318322
ClinVar RCV Id:
RCV000307485
RCV000687605
RCV002487404
RCV002450875
RCV003469253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Cys802Phe
CA038816
NM_001318832.2:c.2405G>T