ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA262609
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49352
ClinVar RCV Id:
RCV000042612
RCV000190040
RCV001797601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu1717Pro
CA021894
NM_000548.5:c.5150T>C