ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829971672
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
242215
ClinVar RCV:
RCV000230979
RCV001025142
RCV003469154
RCV003998842
ClinVar Variation:
238090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser211Phe
CA10583283
NM_021055.3:c.632C>T