ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825919333
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_001155898.1:p.Ala1025Thr
CA035755
NM_001162426.2:c.3073G>A