Canonical Allele Identifier: PA658670933
Gene: COL12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 475873
ClinVar RCV Id: RCV000545369 RCV001085764
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004361.3:p.Glu1741Lys
CA3893227
NM_004370.6:c.5221G>A