ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825434664
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184164
ClinVar RCV Id:
RCV000163340
RCV000189966
RCV000229264
RCV000347186
RCV001721043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ala210Thr
CA022705
NM_001077183.3:c.628G>A