Canonical Allele Identifier: PA2830122545
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291505
ClinVar RCV Id: RCV000368686 RCV000393287 RCV000488030 RCV002480062 RCV002519362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Gly1292Ser
CA973631
NM_080630.4:c.3874G>A