ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577101
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847781
ClinVar RCV Id:
RCV001051397
RCV002339257
RCV003467763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ala1594Thr
CA394308162
NM_001114382.3:c.4780G>A