Allele Registry

Canonical Allele Identifier: PA2828833532

Gene: COL18A1 HGNC NCBI

ClinVar RCV:

RCV000287059

RCV001351474

RCV002523184

ClinVar Variation:

340229

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366429.1:p.Ala587Val	CA10066533 NM_001379500.1:c.1760C>T