ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828091693
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406001
ClinVar RCV Id:
RCV000473625
RCV000570501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Asp635Asn
CA16615059
NM_001363528.2:c.1903G>A