ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016869
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467984
ClinVar RCV Id:
RCV000575476
RCV000594514
RCV000761927
RCV001086235
RCV004537998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala111Val
CA043693
NM_001318832.2:c.332C>T