ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438021
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486629
ClinVar RCV Id:
RCV000573012
RCV000644391
RCV001722536
RCV003230549
RCV003153748
RCV004001153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val1253Ile
CA049761
NM_001077183.3:c.3757G>A