ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825963618
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1804823
ClinVar RCV Id:
RCV002470120
RCV003775506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Ser194Asn
CA378207726
NM_001163812.2:c.581G>A