ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825957064
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
459043
ClinVar RCV:
RCV000567937
RCV000988275
ClinVar Variation:
466072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Tyr710His
CA032032
NM_001162427.2:c.2128T>C