ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829982281
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000330059
RCV000415620
RCV002338901
ClinVar Variation:
318332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Asp1569Asn
CA10637331
NM_021055.3:c.4705G>A