Canonical Allele Identifier: PA2830160122
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356381
ClinVar RCV Id: RCV000292764 RCV000332746 RCV000374418 RCV000338427 RCV001850898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Val1565Ile
CA3749945
NM_080681.3:c.4693G>A