Canonical Allele Identifier: PA2825185155
Gene: TSC2 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Met1131Ile
CA394286812
NM_000548.5:c.3393G>A
CA394286814
NM_000548.5:c.3393G>C
CA394286815
NM_000548.5:c.3393G>T