ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825956887
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466064
ClinVar RCV Id:
RCV000595767
RCV001079196
RCV002420444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Tyr653Cys
CA031442
NM_001162427.2:c.1958A>G