ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825957870
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000122197
RCV000534056
RCV002321604
ClinVar Variation:
135369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Gly1006Ser
CA007215
NM_001162427.2:c.3016G>A