Canonical Allele Identifier: PA2828415177
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49335
ClinVar RCV Id: RCV000042595 RCV000359328 RCV000543686 RCV002336159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asn1607Ser
CA021383
NM_001370404.1:c.4820A>G