ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023203
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65108
ClinVar RCV Id:
RCV000055320
RCV000644085
RCV001118864
RCV002408557
RCV003466927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ile75Val
CA016191
NM_001318832.2:c.223A>G