ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916058645
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427899
ClinVar RCV Id:
RCV000490890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Gly953Val
CA410518558
NM_130444.2:c.2858G>T