Canonical Allele Identifier: PA2830129914
Gene: COL11A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 356395
ClinVar RCV Id: RCV000274780 RCV000294955 RCV000317488 RCV000389201 RCV000596294
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542410.2:p.Pro924Leu
CA3750643
NM_080679.3:c.2771C>T
CA645548072
NM_080679.3:c.2770_2771delinsTT