ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319387
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207683
ClinVar RCV Id:
RCV001022088
RCV000915945
RCV001721232
RCV003996869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1409Gln
CA050701
NM_000548.5:c.4226G>A