ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827006236
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468174
ClinVar RCV Id:
RCV000536042
RCV001025745
RCV003999334
RCV003223650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asn180Ser
CA394312549
NM_001318829.2:c.539A>G