Canonical Allele Identifier: PA916058645
Gene: COL18A1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_569711.2:p.Gly953Val
CA410518558
NM_130444.2:c.2858G>T