ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023735
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467912
ClinVar RCV Id:
RCV000526190
RCV001577413
RCV001013916
RCV003999262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu674Phe
CA035428
NM_001318832.2:c.2020C>T