ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061177
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
475055
ClinVar RCV:
RCV000565729
RCV000642001
RCV004001135
ClinVar Variation:
486567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ser917Gly
CA035829
NM_001362177.1:c.2749A>G