Canonical Allele Identifier: PA916058647
Gene: COL18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 340227
ClinVar RCV Id: RCV000340898 RCV004549789 RCV001349865 RCV002523183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_569711.2:p.Ala978Thr
CA10066510
NM_130444.2:c.2932G>A