Canonical Allele Identifier: PA645454620
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286462
ClinVar RCV Id: RCV000380544 RCV001220718
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro192Leu
CA2189836
NM_004369.4:c.575C>T