Canonical Allele Identifier: PA658810704
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499547
ClinVar RCV Id: RCV000592371 RCV001294288
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala950Thr
CA10071050
NM_001848.3:c.2848G>A