Canonical Allele Identifier: PA2830130782
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282710
ClinVar RCV Id: RCV000263619 RCV000275678 RCV000274352 RCV000331778 RCV000369185 RCV000374670 RCV001249267 RCV003165728
ClinVar Variation Id: 2067786
ClinVar RCV Id: RCV002970649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Asp1511Glu
CA3749989
NM_080679.3:c.4533C>G
CA363617400
NM_080679.3:c.4533C>A