ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829979277
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384002
ClinVar RCV Id:
RCV000435796
RCV001020594
RCV001797719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1142Val
CA16607153
NM_021055.3:c.3425C>T