ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437327
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000221766
RCV001341323
RCV002251447
ClinVar Variation:
233995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ser1050Trp
CA045126
NM_001077183.3:c.3149C>G