Canonical Allele Identifier: PA645412160
Gene: COL11A1 HGNC NCBI
ClinVar RCV:
RCV000346298
ClinVar Variation:
289713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542196.2:p.Gly802Asp
CA10606522
NM_080629.3:c.2405G>A