ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825957200
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000042203
RCV000642006
RCV002483037
RCV003298084
ClinVar Variation:
48952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ile756Thr
CA006415
NM_001162427.2:c.2267T>C