Canonical Allele Identifier: PA645400600
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418910
ClinVar RCV Id: RCV000481388 RCV001476375
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg110His
CA10069528
NM_001848.3:c.329G>A