ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830035950
Gene: COL18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002953847
ClinVar Variation:
2064988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085059.2:p.Ala1098Val
CA410499140
NM_030582.4:c.3293C>T