ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830156967
Gene: COLQ
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536800.2:p.Gln408del
CA2573136188
NM_080539.4:c.1222_1224del