Canonical Allele Identifier: PA658810675
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498340
ClinVar RCV Id: RCV000592335 RCV000795352 RCV002532412
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg854His
CA10070958
NM_001848.3:c.2561G>A