ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435167
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265281
ClinVar RCV Id:
RCV000256049
RCV000707658
RCV002338812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Glu1583Lys
CA10588598
NM_000548.5:c.4747G>A