Canonical Allele Identifier: PA2830160070
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 178604
ClinVar RCV Id: RCV000155357 RCV000285869 RCV000316522 RCV000343257 RCV000373381 RCV001521390 RCV002277310 RCV002484938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Arg1514Gln
CA182640
NM_080681.3:c.4541G>A