Canonical Allele Identifier: PA658662355
Gene: COL18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447131
ClinVar RCV Id: RCV000517619 RCV000764262 RCV000766954 RCV002527466 RCV004553126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_085059.2:p.Arg172His
CA10065497
NM_030582.4:c.515G>A