ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825187639
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2626432
ClinVar RCV Id:
RCV003382412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala1546Val
CA394304934
NM_000548.5:c.4637C>T