ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987457
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379061
ClinVar RCV Id:
RCV000556341
RCV001018495
RCV003996015
RCV000424313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ala975Thr
CA035755
NM_001162427.2:c.2923G>A