ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825880290
Gene: COG6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003378491
RCV003778040
ClinVar Variation:
2610813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138551.1:p.Pro369Ser
CA248374073
NM_001145079.2:c.1105C>T