ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023546
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405944
ClinVar RCV Id:
RCV000471506
RCV001012244
RCV001564370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser537Asn
CA031083
NM_001318832.2:c.1610G>A