ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828090213
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207703
ClinVar RCV Id:
RCV000189962
RCV000205768
RCV000573793
RCV002500580
RCV004537593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ile195Val
CA055442
NM_001363528.2:c.583A>G