ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022898
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468173
ClinVar RCV Id:
RCV000528200
RCV002255451
RCV003999333
RCV003237914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala24Thr
CA056104
NM_001318831.2:c.70G>A