Canonical Allele Identifier: PA2830158854
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356406
ClinVar RCV Id: RCV000291185 RCV000346166 RCV000386159 RCV000350359 RCV001662334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Gly375Cys
CA3751368
NM_080681.3:c.1123G>T