ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830156960
Gene: COLQ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6654
ClinVar RCV Id:
RCV000007033
RCV001813737
RCV004526590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536800.2:p.Tyr396Ser
CA118395
NM_080539.4:c.1187A>C