Canonical Allele Identifier: PA2829347670
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291519
ClinVar RCV Id: RCV000291280 RCV000343870 RCV001823132 RCV003228921
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001845.3:p.Pro1077Thr
CA974092
NM_001854.4:c.3229C>A