ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022984
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207707
ClinVar RCV Id:
RCV000527430
RCV000568400
RCV004537594
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala89Val
CA056623
NM_001318831.2:c.266C>T