ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825919441
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411222
ClinVar RCV Id:
RCV000470360
RCV002307508
RCV003168847
RCV004001892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Ala1069Val
CA16612440
NM_001162426.2:c.3206C>T