Canonical Allele Identifier: PA2830159069
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356403
ClinVar RCV Id: RCV000291438 RCV000344875 RCV000393564 RCV000400742
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Gly599Ala
CA10626490
NM_080681.3:c.1796G>C