Canonical Allele Identifier: PA2830122026
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291515
ClinVar RCV Id: RCV000348216 RCV000406086 RCV001590910
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Val1042Ala
CA974003
NM_080630.4:c.3125T>C