Canonical Allele Identifier: PA2580259391
Gene: COL9A1 HGNC NCBI
ClinVar RCV:
RCV002685399
ClinVar Variation:
1947052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001842.3:p.Pro393Ala
CA364681210
NM_001851.6:c.1177C>G