Canonical Allele Identifier: PA658810497
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500725
ClinVar RCV Id: RCV000596888 RCV003631138
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg210Trp
CA321959196
NM_001848.3:c.628C>T