Canonical Allele Identifier: PA645400732
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429802
ClinVar RCV Id: RCV000493688 RCV000695796 RCV001137825 RCV002527089
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg211Cys
CA10069639
NM_001848.3:c.631C>T