ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023182
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207655
ClinVar RCV Id:
RCV000189881
RCV000467572
RCV002314773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr47Ala
CA028094
NM_001318832.2:c.139A>G