ClinGen Allele Registry
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Canonical Allele Identifier:
PA916022935
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49384
ClinVar RCV Id:
RCV000042644
RCV000554931
RCV000612409
RCV002288539
RCV002381326
RCV003460556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr46Ala
CA022910
NM_001318831.2:c.136A>G