Canonical Allele Identifier: PA916057772
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225318
ClinVar RCV Id: RCV000217677 RCV000293819 RCV000348697 RCV000393362 RCV000490461 RCV000387942 RCV002277571 RCV001510421 RCV003947688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Gly230Trp
CA3751596
NM_080681.3:c.688G>T