ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827009117
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41738
ClinVar RCV Id:
RCV000034655
RCV000054856
RCV000118707
RCV000163277
RCV000462108
RCV003153325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1214His
CA019777
NM_001318829.2:c.3641G>A