ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825577222
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49335
ClinVar RCV Id:
RCV000042595
RCV000359328
RCV000543686
RCV002336159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Asn1628Ser
CA021383
NM_001114382.3:c.4883A>G