Canonical Allele Identifier: PA239825
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194039
ClinVar RCV Id: RCV000174301 RCV000821054
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys319Arg
CA239823
NM_001848.3:c.956A>G