ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825919244
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000570020
RCV000727040
RCV000796986
RCV001323564
RCV002440647
ClinVar Variation:
207637
643313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Gly998Arg
CA035493
NM_001162426.2:c.2992G>A
CA035511
NM_001162426.2:c.2992G>C