ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825573322
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49660
ClinVar RCV Id:
RCV000042922
RCV000122206
RCV000130880
RCV000204918
RCV000989417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ala460Thr
CA014629
NM_001114382.3:c.1378G>A