Canonical Allele Identifier: PA645400931
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281934
ClinVar RCV Id: RCV000319412 RCV000794729 RCV002519102
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Tyr339His
CA10070036
NM_001848.3:c.1015T>C