ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319531
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207753
ClinVar RCV Id:
RCV000491452
RCV000713933
RCV001087398
RCV003996896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Gly1408Val
CA050682
NM_000548.5:c.4223G>T