Canonical Allele Identifier: PA2828414901
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000644175
ClinVar Variation:
535941
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Tyr1527His
CA394307381
NM_001370404.1:c.4579T>C