ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825955145
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000703163
ClinVar Variation:
579793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Met173Lys
CA375371510
NM_001162427.2:c.518T>A