Canonical Allele Identifier: PA658810493
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543001
ClinVar RCV Id: RCV000653594 RCV002534201
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.His207Gln
CA321959178
NM_001848.3:c.621C>A
CA410518501
NM_001848.3:c.621C>G