Canonical Allele Identifier: PA2826161691
Gene: COL11A1 HGNC NCBI
ClinVar RCV:
RCV000346298
ClinVar Variation:
289713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001177638.1:p.Gly751Asp
CA10606522
NM_001190709.2:c.2252G>A