ClinGen Allele Registry
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Canonical Allele Identifier:
PA915986841
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000808212
RCV002291701
RCV002370159
RCV002487737
ClinVar Variation:
652627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Ser295Thr
CA375369099
NM_001162426.2:c.884G>C