Canonical Allele Identifier: PA2828416896
Gene: TSC2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asn331Asp
CA16614698
NM_001370405.1:c.991A>G