ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956631
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207612
ClinVar RCV Id:
RCV000782213
RCV001082729
RCV001013799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Val597Ala
CA030214
NM_001162427.2:c.1790T>C