ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011216
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000163340
RCV000189966
RCV000229264
RCV000347186
RCV001721043
ClinVar Variation:
184164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala10Thr
CA022705
NM_001318831.2:c.28G>A