ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680363
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_000539.2:p.Asn229Ser
CA394312549
NM_000548.5:c.686A>G