ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955881
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
459111
ClinVar RCV:
RCV000534300
RCV001195754
RCV001545105
RCV002257807
RCV003999189
ClinVar Variation:
466025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Gly392Val
CA375366083
NM_001162427.2:c.1175G>T