ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825572497
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_001107854.1:p.Ala210Val
CA022710
NM_001114382.3:c.629C>T