Canonical Allele Identifier: PA658659331
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476427
ClinVar RCV Id: RCV000555212 RCV003139856
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg872Gln
CA10070982
NM_001848.3:c.2615G>A