ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825919306
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466113
ClinVar RCV Id:
RCV000525879
RCV002258952
RCV002506340
RCV003983115
RCV003999216
RCV004525968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Gly1015Asp
CA375367719
NM_001162426.2:c.3044G>A