Canonical Allele Identifier: PA658810555
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501301
ClinVar RCV Id: RCV000593070
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg325His
CA410522660
NM_001848.3:c.974G>A