Canonical Allele Identifier: PA645400878
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283762
ClinVar RCV Id: RCV000276804 RCV000704001
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala255Thr
CA10069743
NM_001848.3:c.763G>A