ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825918734
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207636
ClinVar RCV Id:
RCV000189855
RCV000558000
RCV002453702
RCV003153464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Gln791Arg
CA319304
NM_001162426.2:c.2372A>G