ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825440327
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000231534
RCV000571411
RCV000605322
RCV002478840
RCV003477796
RCV003998807
RCV004532842
ClinVar Variation:
237976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val679Met
CA035939
NM_001077183.3:c.2035G>A