ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439025
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000415747
RCV000570208
RCV001088185
RCV003998833
RCV004532853
ClinVar Variation:
238061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val1532Met
CA052464
NM_001077183.3:c.4594G>A