ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825957871
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466122
ClinVar RCV Id:
RCV000551227
RCV001578209
RCV002256369
RCV003999218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Pro1007Thr
CA375367153
NM_001162427.2:c.3019C>A