ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825157503
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2816911
ClinVar RCV Id:
RCV003613707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Thr873Asn
CA375369846
NM_000368.5:c.2618C>A