Canonical Allele Identifier: PA240967
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 194797
ClinVar RCV Id: RCV000175243 RCV001151604 RCV001151605 RCV001154613 RCV002516668
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542411.2:p.Arg546Gln
CA240966
NM_080680.3:c.1637G>A