Canonical Allele Identifier: PA916056899
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291542
ClinVar RCV Id: RCV000321904 RCV000376489 RCV001569728 RCV002519363
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Glu282Gly
CA975293
NM_080630.4:c.845A>G