Canonical Allele Identifier: PA658810543
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 542988
ClinVar RCV Id: RCV000653570

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly302Glu
CA410522282
NM_001848.3:c.905G>A