ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432461
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237987
ClinVar RCV Id:
RCV000234604
RCV000392158
RCV000574918
RCV001697576
RCV004532844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Val766Met
CA038245
NM_000548.5:c.2296G>A