ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645431617
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230395
ClinVar RCV Id:
RCV000213113
RCV000537615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser6Asn
CA033570
NM_000548.5:c.17G>A