ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023684
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406127
ClinVar RCV Id:
RCV000459822
RCV001584142
RCV002411436
RCV004000725
RCV004529591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser636Leu
CA034344
NM_001318832.2:c.1907C>T