Canonical Allele Identifier: PA2830130927
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 505075
ClinVar RCV Id: RCV000615323 RCV001153346 RCV001152082 RCV001152083 RCV001662648
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Arg1588Gln
CA3749908
NM_080679.3:c.4763G>A