Canonical Allele Identifier: PA2830160030
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286504
ClinVar RCV Id: RCV000259748 RCV000316797 RCV000359864 RCV000356933 RCV000725854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Arg1473Trp
CA3750023
NM_080681.3:c.4417C>T