ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658801582
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534470
ClinVar RCV Id:
RCV000642040
RCV002440290
RCV003313121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Gln956Arg
CA375368832
NM_000368.5:c.2867A>G