Canonical Allele Identifier: PA2827011749
Gene: TSC2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Asn131Asp
CA16614698
NM_001318831.2:c.391A>G