ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658675949
Gene: COG6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000523613
RCV002528278
ClinVar Variation:
452649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Glu233Lys
CA6958423
NM_020751.3:c.697G>A