Canonical Allele Identifier: PA240294
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194366
ClinVar RCV Id: RCV000320695 RCV001071986
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly338Glu
CA240292
NM_001848.3:c.1013G>A