Canonical Allele Identifier: PA645431878
Gene: TSC2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asn331Asp
CA16614698
NM_000548.5:c.991A>G