Canonical Allele Identifier: PA645401009
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281119
ClinVar RCV Id: RCV000280526 RCV000403757 RCV000548930 RCV001311580 RCV001265659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg433Gln
CA10070229
NM_001848.3:c.1298G>A