Canonical Allele Identifier: PA2828708823
Gene: COL9A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357811
ClinVar RCV Id: RCV000991647 RCV001375076 RCV002278615 RCV003950271 RCV003447524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364218.1:p.Pro58Leu
CA3882594
NM_001377289.1:c.173C>T