Canonical Allele Identifier: PA2830130690
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 198337
ClinVar RCV Id: RCV000218581 RCV000320721 RCV000328722 RCV000377623 RCV000381022 RCV000724415 RCV004545755
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Arg1444Gln
CA246924
NM_080679.3:c.4331G>A