ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829979271
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000527232
RCV000567911
RCV000764028
RCV002225656
ClinVar Variation:
468021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1141Val
CA394289510
NM_021055.3:c.3422C>T