Canonical Allele Identifier: PA658810619
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498568
ClinVar RCV Id: RCV000595806 RCV001209850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro613Thr
CA10070639
NM_001848.3:c.1837C>A