Canonical Allele Identifier: PA916057749
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 226533
ClinVar RCV Id: RCV000214622 RCV000275901 RCV000333347 RCV000274718 RCV000385285 RCV001722140 RCV002277574 RCV003165522
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542412.2:p.Pro77Gln
CA3751735
NM_080681.3:c.230C>A