Canonical Allele Identifier: PA2830154707
Gene: COL9A1 HGNC NCBI
ClinVar RCV:
RCV002685399
ClinVar Variation:
1947052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_511040.2:p.Pro150Ala
CA364681210
NM_078485.4:c.448C>G