ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829974483
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385710
ClinVar RCV Id:
RCV000424565
RCV001865357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala623Val
CA16608037
NM_021055.3:c.1868C>T