Canonical Allele Identifier: PA2830121720
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2129160
ClinVar RCV Id: RCV003040399

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Gly785Arg
CA341163202
NM_080630.4:c.2353G>C
CA341163204
NM_080630.4:c.2353G>A