ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023855
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000234604
RCV000392158
RCV000574918
RCV001697576
RCV004532844
ClinVar Variation:
237987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val777Met
CA038245
NM_001318832.2:c.2329G>A