Canonical Allele Identifier: PA247600
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198777
ClinVar RCV Id: RCV000180223 RCV000401943 RCV000302249 RCV000724098 RCV004539694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542196.2:p.Glu353Gln
CA247598
NM_080629.3:c.1057G>C