ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011214
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187388
ClinVar RCV Id:
RCV000167112
RCV000233190
RCV001721086
RCV003995559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala10Val
CA022710
NM_001318831.2:c.29C>T