Canonical Allele Identifier: PA2830122275
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291512
ClinVar RCV Id: RCV000269269 RCV000364042 RCV002487297 RCV002522048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542197.3:p.Pro1147Leu
CA973846
NM_080630.4:c.3440C>T