ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827003853
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535915
ClinVar RCV Id:
RCV000644144
RCV002358832
RCV004004000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Asn1190Ser
CA394293642
NM_001318827.2:c.3569A>G