ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828094860
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318332
ClinVar RCV Id:
RCV000330059
RCV000415620
RCV002338901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Asp1546Asn
CA10637331
NM_001363528.2:c.4636G>A