ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916043297
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411281
ClinVar RCV Id:
RCV000474862
RCV002323745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Asp986Asn
CA16612730
NM_001362177.1:c.2956G>A