Canonical Allele Identifier: PA098352
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419392
ClinVar RCV Id: RCV000481274 RCV002525796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly272Asp
CA16621025
NM_001848.3:c.815G>A