ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645435667
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238077
ClinVar RCV Id:
RCV000234330
RCV002338712
RCV003469153
RCV003223629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asp1734Val
CA10583344
NM_000548.5:c.5201A>T