Canonical Allele Identifier: PA2830167820
Gene: COL18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2066695
ClinVar RCV Id: RCV002966207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_569711.2:p.Lys1324Asn
CA410499079
NM_130444.2:c.3972G>C
CA410499080
NM_130444.2:c.3972G>T