ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955004
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466147
ClinVar RCV Id:
RCV000546386
RCV001023799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Val124Ala
CA375372890
NM_001162427.2:c.371T>C