Canonical Allele Identifier: PA2830122687
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291500
ClinVar RCV Id: RCV000310065 RCV000399173 RCV004543154 RCV001567972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Pro1383Ser
CA973507
NM_080630.4:c.4147C>T