Canonical Allele Identifier: PA221806
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93896
ClinVar RCV Id: RCV000173745 RCV001854408
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly299Glu
CA221804
NM_001848.3:c.896G>A