Canonical Allele Identifier: PA658659300
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476416
ClinVar RCV Id: RCV000532828 RCV000594225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala514Thr
CA10070394
NM_001848.3:c.1540G>A