Canonical Allele Identifier: PA658659277
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476439
ClinVar RCV Id: RCV000544305
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly275Trp
CA410521476
NM_001848.3:c.823G>T