ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829971930
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468180
ClinVar RCV Id:
RCV000543169
RCV002395408
RCV003999336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Cys253Phe
CA394312795
NM_021055.3:c.758G>T