ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016848
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406038
ClinVar RCV Id:
RCV000471856
RCV001797088
RCV002436401
RCV004533162
RCV004000706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro105Leu
CA042049
NM_001318832.2:c.314C>T