ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825437941
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41736
ClinVar RCV Id:
RCV000034653
RCV000054864
RCV000122229
RCV000129666
RCV000231518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ala1230Thr
CA019668
NM_001077183.3:c.3688G>A