ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987504
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486567
ClinVar RCV Id:
RCV000565729
RCV000642001
RCV004001135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ser987Gly
CA035829
NM_001162427.2:c.2959A>G