ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658659839
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466111
ClinVar RCV Id:
RCV000525091
RCV002316554
RCV003999215
RCV003476284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Asn1008Ser
CA375367854
NM_000368.5:c.3023A>G