ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264597
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65146
ClinVar RCV Id:
RCV000055361
RCV000644174
RCV002336202
RCV003996478
RCV004537241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Met1691Thr
CA021670
NM_000548.5:c.5072T>C