ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829973639
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187099
ClinVar RCV Id:
RCV000166788
RCV000536283
RCV003995532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ile530Val
CA015168
NM_021055.3:c.1588A>G