Canonical Allele Identifier: PA645401285
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285447
ClinVar RCV Id: RCV000325487 RCV001212841 RCV003165743
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala934Thr
CA10071037
NM_001848.3:c.2800G>A