ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825572192
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468016
ClinVar RCV Id:
RCV000544848
RCV001020329
RCV003999291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Arg115His
CA046888
NM_001114382.3:c.344G>A