ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830376361
Gene: CCDC50
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3139184
ClinVar RCV Id:
RCV004427528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848018.1:p.Asn259Ile
CA355764458
NM_178335.3:c.776A>T