Canonical Allele Identifier: PA2830122640
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198301
ClinVar RCV Id: RCV000179579 RCV000306668 RCV000364746 RCV000897631 RCV004020151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Ile1374Val
CA203356
NM_080630.4:c.4120A>G