Canonical Allele Identifier: PA645401120
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 340321
ClinVar RCV Id: RCV000324514 RCV001261410 RCV001764309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg565Gln
CA10644868
NM_001848.3:c.1694G>A