Canonical Allele Identifier: PA2830130792
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2129801
ClinVar RCV Id: RCV003044222

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Val1518Leu
CA363616639
NM_080679.3:c.4552G>T
CA363616642
NM_080679.3:c.4552G>C