Canonical Allele Identifier: PA645400602
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391655
ClinVar RCV Id: RCV000420318
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg110Gly
CA16609071
NM_001848.3:c.328C>G