ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020405
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238061
ClinVar RCV Id:
RCV000415747
RCV000570208
RCV001088185
RCV003998833
RCV004532853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val1543Met
CA052464
NM_001318832.2:c.4627G>A