Canonical Allele Identifier: PA2830121609
Gene: COL11A1 HGNC NCBI
ClinVar RCV:
RCV000346298
ClinVar Variation:
289713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Gly674Asp
CA10606522
NM_080630.4:c.2021G>A