Canonical Allele Identifier: PA2829347221
Gene: COL11A1 HGNC NCBI
ClinVar RCV:
RCV000346298
ClinVar Variation:
289713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001845.3:p.Gly790Asp
CA10606522
NM_001854.4:c.2369G>A