ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954864
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49073
ClinVar RCV Id:
RCV000042326
RCV000641989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Phe216Ser
CA007933
NM_001162426.2:c.647T>C