Canonical Allele Identifier: PA2830159179
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356399
ClinVar RCV Id: RCV000268237 RCV000303393 RCV000307051 RCV000360580 RCV002058604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Arg720Cys
CA3750918
NM_080681.3:c.2158C>T